Lee, Hwang Il S.
BSN IIC by giving abdominal thrusts or
Nursing Care of children with problems
in Nutrition and GI disorders
A. Common GIT incidents
a. Foreign bodies
As children explore the world, they will
inevitably put foreign bodies into their
mouths and swallow some of them.
Most swallowed foreign bodies pass
harmlessly through the gastrointestinal
(GI) tract. Foreign bodies that damage
the GI tract, become lodged, or have
associated toxicity must be identified
and removed. Children with preexisting
GI abnormalities (eg, tracheoesophageal
fistula, stenosing lesions, previous GI
surgery) are at an increased risk for
complications.
Treatment:
• Most children who have
swallowed a foreign body do not
require specialized care.
• Patients with drooling may
require suction.
• Children benefit by being
allowed to remain with their
parents and being allowed to
assume a position of comfort.
• Although a theoretical risk of
spontaneously vomiting and then
aspiration of a foreign body
exists, this is unusual. Children
should not routinely be intubated
to protect their airways.
• Similarly, do not attempt to
dislodge a foreign body from a
spontaneously breathing patient
syrup of ipecac.
Endoscopy (esophagoscopy) is by far the
most commonly used means of removal
and is usually the procedure of choice.
Most children with esophageal foreign
bodies are stable. Endoscopy usually can
be delayed until the child's stomach is
emptied and a surgical team is
assembled. However, pointed objects
should be removed as rapidly as possible
to avoid further injury to the esophageal
mucosa. Impacted button (disk) batteries
are notorious for rapidly causing local
necrosis and should be removed from the
esophagus without delay.
Foley catheter method: Blunt foreign
bodies may be removed by use of a
Foley catheter. The patient is restrained
in a head-down position on a
fluoroscopy table, and an uninflated
catheter is inserted distal to the object.
The catheter is then inflated and gently
withdrawn, drawing the foreign body
with it. Progress is typically monitored
fluoroscopically.
Bougienage method: Blunt esophageal
foreign bodies may be advanced into the
stomach with a bougie. While the child
is sitting upright, the lubricated
instrument is gently passed down the
esophagus, dislodging the object. The
object is then expected to pass through
the rest of the GI tract; thus, this
procedure should not be performed on
children with known lower GI tract
abnormalities. A brief observation
period and a repeat radiograph should
follow any removal procedure to rule out
retained foreign bodies and other
complications (eg,
pneumomediastinum).
Although drugs such as glucagon,
benzodiazepines, and nifedipine have
been successfully used to relax the lower
esophageal sphincter in adult patients
with esophageal foreign bodies, these
measures are generally unsuccessful in
children.
b. Vomiting
Assessment:
- differentiate between the various
terms that are used. It is
important that vomiting be
described correctly because
different conditions are marked
by different forms of vomiting,
and a correct description of the
child’s actions can aid greatly in
diagnosis.
Therapeutic Management:
- withhold food from the stomach
for a time. If there is nothing in
the stomach, vomiting cannot
occur. Most parents treat
vomiting in the opposite way.
Every time the child vomits, they
attempt to feed the child again.
The child vomits again and they
feed again, and so on. This
prolongs the vomiting and
intensifies the potential for
electrolyte imbalance.
c. Diarrhea
Assessment:
- may be mild or severe
CHARACTERISTIC DIARRHEAL
STOOL
Frequency Unlimited no.
Color Green
Effort of Expulsion Effortless
pH Less than 7.0
Odor Sweet or foul
smelling
Occult blood Positive; blood
may be overt
Reducing substances Positive
- For Mild Diarrhea:
- fever: 38.4 – 39.0 degree Celsius
- anorectic and irritable and appear
unwell
- episodes of diarrhea consist of 2
to 10 loose, watery bowel
movements per day.
- The mucous membrane of the
mouth appears dry in an infant
with mild diarrhea. The pulse
will be rapid and out of
proportion to the low-grade
fever.
- Skin feels warm. Skin turgor is
not yet decreased.
- For Severe Diarrhea:
- Progressive mild diarrhea
- rectal temperature: 39.5 – 40.0
degree Celsius
- both pulse and respirations are
weak and rapid
- skin is pale and cool
- infant may appear apprehensive.
Listless, and lethargic
- signs of dehydration: depressed
fontanelle, sunken eyes, and poor
skin turgor
- stool is liquid green, perhaps
mixed with mucus and blood,
and it may be passed with
explosive force.
- Urine output will be scanty and
concentrated.
Therapeutic Management (mild):
- rest
- oral rehydration solution such as
pedialyte in small amount on a
regimen similar to that for
vomiting
- for breast fed infants: continue
breast feeding
- don’t use over-the-counter drugs
such as loperamide or kaolin and
pectin to halt diarrhea. As a rule,
these are too strong for young
children.
- Wash hands after changing
diapers to prevent the spread of
infection and to notify their
health care provider if fever,
pain, or diarrhea worsens.
Therapeutic Management (severe):
- oral or IV rehydration therapy,
initiating rest for the GI tract, and
discovering the organism
responsible for the diarrhea
- stool culture
- blood specimens need to be
drawn for a hemoglobin level
- Wbc and differential counts
d. Botulism
Treatment:.
- The respiratory failure and
paralysis that occur with severe
botulism may require a patient to
be on a ventilator for weeks, plus
intensive medical and nursing
care. After several weeks, the
paralysis slowly improves. If
diagnosed early, foodborne and
wound botulism can be treated
by inducing passive immunity
with a horse-derived antitoxin,
which blocks the action of toxin
circulating in the blood. This can
prevent patients from worsening,
but recovery still takes many
weeks. Physicians may try to
remove contaminated food still in
the gut by inducing vomiting or
by using enemas. Wounds should
be treated, usually surgically, to
remove the source of the toxin-
producing bacteria. Good
supportive care in a hospital is
the mainstay of therapy for all
forms of botulism.
- Furthermore each case of food-
borne botulism is a potential
public health emergency in that it
is necessary to identify the
source of the outbreak and ensure
that all persons who have been
exposed to the toxin have been
identified, and that no
contaminated food remains.
e. Cryptorchidism
Cryptorchidism - Failure of one or both
of the testes to descend into
scrotumDistinguished undescended
testes from retractable testes (retractable
can be "milked down"True undescended
testes are in the abdomen or inguinal
canal and cannot be milked into the
scrotum
Therapeutic Management:
- Cryptorchidism Treatment -
Observation while awaiting
spontaneous descent of the testes
during the first year of life.
Surgery between 1 and 2
 - Cryptorchidism Nursing Care -
In post-op period wear loose
clothing. Change diapers
frequently to decrease chance of
infection. Avoid strenuous
activities Teach about monthly
testicular exams into puberty
f. Cow’s Milk Sensitivity
Treatment:
- Currently the only treatment for
milk allergies is total avoidance
of milk proteins. Products in
addition to milk itself to be
avoided by those with milk
allergy include yogurt, butter,
cheese, and cream. Goats' milk
products may also need to be
avoided.
- Ingredients that also denote that
food product contains dairy milk
include whey, casein, caseinate,
butter flavor, lactic acid (lactic
acid derived from dairy
products), natural or artificial
flavors such as milk or butter
flavor, and sodium caseinate.
B. Nutritional Disorders
a. Undernutrition
- Undernutrition is a deficiency of
calories or of one or more
essential nutrients.
Treatment:
- For most people, treatment
involves gradually increasing the
number of calories consumed.
Eating several small, nutritious
meals each day is the best way.
For people who have been
starving, foods are reintroduced
carefully. People who have
difficulty digesting solid food
may need liquid supplements. If
undernutrition is severe, people
may need to be hospitalized.
Multivitamin supplements are
also given.
- Tube Feeding: This method may
be used to feed people whose
digestive tract is functioning
normally but who cannot eat
enough to meet their nutritional
needs (such as people with
severe burns) or who cannot
swallow (such as some people
who have had a stroke). For tube
feeding, a thin plastic tube (a
nasogastric tube) is passed
through the nose and down the
throat until it reaches the
stomach or small intestine. If
tube feeding is needed for a long
time, the tube can be inserted
directly into the stomach or small
intestine through a small incision
in the abdomen.
- Intravenous Feeding: This
method is used when the
digestive tract cannot adequately
absorb nutrients (for example, in
people with a malabsorption
disorder). It is also used when the
digestive tract must be
temporarily kept free of food (for
example, in people with
ulcerative colitis or severe
pancreatitis).
- Drugs: People who are very
undernourished are sometimes
given drugs to increase appetite,
such as dronabinol or megestrol,
or drugs to increase muscle mass,
such as growth hormone or an
anabolic steroid (for example,
nandrolone or testosterone

b. Kwashiorkor
- Kwashiorkor is an acute form of
childhood protein-energy
malnutrition characterized by
edema, irritability, anorexia,
ulcerating dermatoses, and an
enlarged liver with fatty
infiltrates. The presence of
edema caused by poor nutrition
defines kwashiorkor.
Kwashiorkor was thought to be
caused by insufficient protein
consumption but with sufficient
calorie intake, distinguishing it
from marasmus. More recently,
micronutrient and antioxidant
deficiencies have come to be
recognized as contributing to
kwashiorkor as well. Cases in the
developed world are rare.
- by pediatricians, it covers poor
c. Marasmus
- Marasmus is a form of severe
protein energy malnutrition
characterized by energy
deficiency.
- A child with marasmus looks
emaciated. Body weight may be
reduced to less than 80% of the
normal weight for that height
Marasmus occurrence increases
prior to age 1, whereas
kwashiorkor occurrence
increases after 18 months.
- nutrition. Treatment aims to
Treatment:
Treatment:
- It is necessary to treat not only
the symptoms but also the
complications of the disorder,
including infections, dehydration,
and circulation disorders, which
are frequently lethal and lead to
high mortality if ignored.
- Ultimately, marasmus can
progress to the point of no return
when the body's machinery for
protein synthesis, itself made of
protein, has been degraded to the
point that it cannot handle any
protein. At this point, attempts to
correct the disorder by giving
food or protein are futile.
d. Failure to thrive
- Failure to thrive (FTT) is a
medical term which denotes poor
weight gain and physical growth
failure over an extended period
of time. Common usage refers to
infancy. However, the term is
also applied to geriatrics. As used
physical growth of any cause and
does not imply abnormal
intellectual, social, or emotional
development. Failure to thrive is
weight consistently below the 3rd
to the 5th percentile for age,
progressive decrease in weight to
below the 3rd to the 5th
percentile, or a decrease in the
percentile rank of 2 major growth
parameters in a short period. The
cause may be an identified
medical condition or related to
environmental factors. Both
types relate to inadequate
restore proper nutrition.
- Treatment aims to provide
sufficient health and
 environmental resources to
promote satisfactory growth. A
nutritious diet containing
adequate calories for catch-up
growth (about 150% of normal
caloric requirement) and
individualized medical and social
supports are usually necessary.
- For children with organic or
mixed FTT, the underlying
disorder should be treated
quickly. For children with
apparent nonorganic FTT or
mixed FTT, management
includes provision of education
and emotional support to correct
problems interfering with the
parent-child relationship.
e. Rickets
- Rickets is a softening of bones in
children potentially leading to
fractures and deformity. Rickets
is among the most frequent
childhood diseases in many
developing countries. The
predominant cause is a vitamin D
deficiency, but lack of adequate
calcium in the diet may also lead
to rickets (cases of severe
diarrhea and vomiting may be the
cause of the deficiency).
Although it can occur in adults,
the majority of cases occur in
children suffering from severe
malnutrition, usually resulting
from famine or starvation during
the early stages of childhood.
Treatment:
- Treatment involves increasing
dietary intake of calcium,
phosphates and vitamin D.
- A sufficient amount of ultraviolet
B light in sunlight each day and
adequate supplies of calcium and
phosphorus in the diet can
prevent rickets. Darker-skinned
babies need to be exposed longer
to the ultraviolet rays. The
replacement of vitamin D has
been proven to correct rickets
using these methods of
ultraviolet light therapy and
medicine.
f. Infantile Nutritional Tetany
- Spasmophilia may be defined as
a hyperirritability of the
peripheral nerves to mechanical
and electrical stimulation with a
tendency to tonic and clonic
spasms. The disease is very
common in infancy and is
responsible for most of the
convulsions of infants from six to
eighteen months of age.
Treatment:
- The treatment is most
satisfactory and is divided into
two stages:
1. The control of convulsions and
spasms;
2. The correction of the underlying
condition.
- In controlling the convulsions
and spasms, it must be
remembered that these only
occur when the calcium content
of the blood is below a certain
level, and that the calcium may
easily be raised above this level,
by the administration of calcium
 in sufficient doses by mouth; but
this level is only maintained by
the continual administration of
calcium, which has no permanent
or curative effect.
g. Scurvy
- Scurvy is a disease resulting
from a deficiency of vitamin C,
which is required for the
synthesis of collagen in humans.
The chemical name for vitamin
C, ascorbic acid, is derived from
the Latin name of scurvy,
scorbutus, which also provides
the adjective scorbutic ("of,
characterized by or having to do
with scurvy"). Scurvy leads to
the formation of spots on the
skin, spongy gums, and bleeding
from the mucous membranes.
The spots are most abundant on
the thighs and legs, and a person
with the ailment looks pale, feels
depressed, and is partially
immobilized. In advanced scurvy
there are open, suppurating
wounds and loss of teeth.
Treatment:
- Scurvy can be prevented by a
diet that includes certain citrus
fruits such as oranges or lemons.
Other sources rich in vitamin C
are fruits such as blackcurrants,
guava, kiwifruit, papaya,
tomatoes, bell peppers, and
strawberries. It can also be found
in some vegetables, such as
carrots, broccoli, potatoes,
cabbage, spinach and paprika.
Some fruits and vegetables not
high in vitamin C may be pickled
in lemon juice, which is high in
vitamin C. Many animal
products, including liver and
oysters, contain vitamin C.
Though redundant in the
presence of a balanced diet
C. GIT System
a. Celiac disease
- Celiac disease is a digestive
disease that damages the small
intestine and interferes with
absorption of nutrients from
food. People who have celiac
disease cannot tolerate gluten, a
protein in wheat, rye, and barley.
Gluten is found mainly in foods
but may also be found in
everyday products such as
medicines, vitamins, and lip
balms.
Treatment:
- The only treatment for celiac
disease is a gluten-free diet.
Doctors may ask a newly
diagnosed person to work with a
dietitian on a gluten-free diet
plan. A dietitian is a health care
professional who specializes in
food and nutrition. Someone with
celiac disease can learn from a
dietitian how to read ingredient
lists and identify foods that
contain gluten in order to make
informed decisions at the grocery
store and when eating out.
b. Biliary Atresia
- Biliary atresia is a rare condition
in newborn infants in which the
common bile duct between the
liver and the small intestine is
 blocked or absent. If
unrecognised, the condition leads
to liver failure but not (as one
might think) to kernicterus. This
is because the liver is still able to
conjugate bilirubin, and
conjugated bilirubin is unable to
cross the blood-brain barrier. The
cause of the condition is
unknown. The only effective
treatments are certain surgeries,
or liver transplantation.
Treatment:
- If the intrahepatic biliary tree is
unaffected, surgical
reconstruction of the extrahepatic
biliary tract is possible. This
surgery is called a Kasai
procedure (after the Japanese
surgeon who developed the
surgery, Dr. Morio Kasai) or
hepatoportoenterostomy.
- If the atresia is complete, liver
transplantation is the only option.
c. Congenital Hypertropic Pyloric
Stenosis
- Pyloric stenosis (or infantile
hypertrophic pyloric stenosis) is
a condition that causes severe
vomiting in the first few months
of life. There is narrowing
(stenosis) of the opening from
the stomach to the intestines, due
to enlargement (hypertrophy) of
the muscle surrounding this
opening (the pylorus, meaning
"gate"), which spasms when the
stomach empties. It is uncertain
whether there is a real congenital
narrowing or whether there is a
functional hypertrophy of the
muscle which develops in the
first few weeks of life.
Treatment:
- Infantile pyloric stenosis is
typically managed with surgery.
It is important to understand that
the danger of pyloric stenosis
comes from the dehydration and
electrolyte disturbance rather
than the underlying problem
itself. Therefore, the baby must
be initially stabilized by
correcting the dehydration and
hypochloremic alkalosis with IV
fluids. This can usually be
accomplished in about 24-48
hours.
2. Toddlers
A. common incidents
a. Poisoning
- Poison is anything that kills or
injures through its chemical
actions. Most poisons are
swallowed (ingested). The word
poison comes from the Latin
word - potare - meaning to drink.
But poisons can also enter the
body in other ways:
• By breathing
• Through the skin
• By IV injection
• From exposure to radiation
• Venom from a snake bite
Treatment:
- Do not induce vomiting or give
syrup of Ipecac.
- Atropine is an antidote for
certain nerve gases and
insecticides.
- A common antidote is N-
acetylcysteine (Mucomyst),
which is used to neutralize
acetaminophen (Tylenol)
overdoses. Acetaminophen, in
normal doses, is one of the safest
medications known, but after a
massive overdose, the liver is
damaged, and hepatitis and liver
failure develop. Mucomyst works
as an antidote by bolstering the
body's natural detoxification
abilities when they are
overwhelmed.
- If the person is agitated or
hallucinating, a sedative can be
given to calm the person until the
drug wears off.
- A ventilator can be used to
breathe for anyone who has
stopped breathing from a
poisoning. Antiseizure medicines
can be used to treat or prevent
seizures
b.. Dental Disorders
- Any condition that affects dental
organs such as the teeth and
gums. Examples of dental
conditions include tooth decay,
tooth infection, gingivitis,
periodontitis, impacted tooth and
canker sores.
Treatment:
- For all forms of periodontitis, the
first phase of treatment consists
of thorough scaling and root
planing (ie, removal of diseased
or toxin-affected cementum and
dentin followed by smoothing of
the root) to remove plaque and
calculus deposits. Thorough
home oral hygiene is necessary.
The patient is reevaluated after 3
wk. If pockets are no deeper than
4 mm at this point, the only
treatment needed is regular
cleanings.
3. Schoolers
A. common incidents
a. Dental Caries
- Dental caries, also known as
tooth decay or cavity, is a disease
wherein bacterial processes
damage hard tooth structure
(enamel, dentin, and cementum).
These tissues progressively break
down, producing dental caries
(cavities, holes in the teeth). Two
groups of bacteria are responsible
for initiating caries:
Streptococcus mutans and
Lactobacillus. If left untreated,
the disease can lead to pain, tooth
loss, infection, and, in severe
cases, death. Today, caries
remains one of the most common
diseases throughout the world.
Cariology is the study of dental
caries.
Treatments:
- Generally, early treatment is less
painful and less expensive than
treatment of extensive decay.
 Anesthetics—local, nitrous oxide
("laughing gas"), or other
prescription medications—may
be required in some cases to
relieve pain during or following
treatment or to relieve anxiety
during treatment. A dental
handpiece ("drill") is used to
remove large portions of decayed
material from a tooth. A spoon is
a dental instrument used to
remove decay carefully and is
sometimes employed when the
decay in dentin reaches near the
pulp. Once the decay is removed,
the missing tooth structure
requires a dental restoration of
some sort to return the tooth to
functionality and aesthetic
condition.
B. GIT System
a. Recurrent abdominal pain
- Abdominal pain (or stomach
ache) can be one of the
symptoms associated with
transient disorders or serious
disease. Making a definitive
diagnosis of the cause of
abdominal pain can be difficult,
because many diseases can result
in this symptom. Abdominal pain
is a common problem. Most
frequently the cause is benign
and/or self-limited, but more
serious causes may require
urgent intervention.
Treatment:
- Investigations that would aid
diagnosis include
• Blood tests including full blood
count, electrolytes, urea,
creatinine, liver function tests,
pregnancy test and lipase.
• Urinalysis
• Imaging including erect chest X-
ray and plain films of the
abdomen
• An electrocardiograph to rule out
a heart attack which can
occasionally present as
abdominal pain
If diagnosis remains unclear after
history, examination and basic
investigations as above then more
advanced investigations may reveal a
diagnosis. These as such would include
• Computed Tomography of the
abdomen/pelvis
• Abdominal or pelvic ultrasound
• Endoscopy and colonoscopy (not
used for diagnosing acute pain)
b. Appendicitis
- Appendicitis is a condition
characterized by inflammation of
the appendix. It is a medical
emergency. All cases require
removal of the inflamed
appendix, either by laparotomy
or laparoscopy. Untreated,
mortality is high, mainly because
of peritonitis and shock.
Treatment:
- The surgical procedure for the
removal of the appendix is called
an appendicectomy (also known
as an appendectomy). Often now
the operation can be performed
 via a laparoscopic approach, or
via three small incisions with a
camera to visualize the area of
interest in the abdomen. If the
findings reveal suppurative
appendicitis with complications
such as rupture, abscess,
adhesions, etc., conversion to
open laparotomy may be
necessary. An open laparotomy
incision if required most often
centers on the area of maximum
tenderness, McBurney's point, in
the right lower quadrant. A
transverse or a gridiron diagonal
incision is used most commonly.
c. Meckel Directiculum
- A Meckel's diverticulum, a true
congenital diverticulum, is a
small bulge in the small intestine
present at birth. It is a vestigial
remnant of the
omphalomesenteric duct (also
called the vitelline duct or yolk
stalk), and is the most frequent
malformation of the
gastrointestinal tract. It is present
in approximately 2% of the
population, with males more
frequently experiencing
symptoms.
- Treatment is surgical.
- In patients with bleeding,
strangulation of bowel, bowel
perforation or bowel obstruction,
treatment involves surgical
resection of both the Meckel's
diverticulum itself along with the
adjacent bowel segment.In
patients without any of the
aforementioned complications,
treatment involves surgical
resection of the Meckel's
diverticulum only.
- It is generally not indicated to
remove Meckel's diverticula
found incidentally during surgery
for other reasons.
d. Ulcers
- A peptic ulcer, also known as
ulcus pepticum, PUD or peptic
ulcer disease, is an ulcer (defined
as mucosal erosions equal to or
greater than 0.5 cm) of an area of
the gastrointestinal tract that is
usually acidic and thus extremely
painful. As many as 80% of
ulcers are associated with
Helicobacter pylori, a spiral-
shaped bacterium that lives in the
acidic environment of the
stomach, however only 40% of
those cases go to a doctor. Ulcers
can also be caused or worsened
by drugs such as aspirin and
other NSAIDs.
Treatment:
- Younger patients with ulcer-like
symptoms are often treated with
antacids or H2 antagonists before
EGD is undertaken. Bismuth
compounds may actually reduce
or even clear organisms, though
it should be noted that the
warning labels of some bismuth
subsalicylate products indicate
that the product should not be
used by someone with an ulcer.
e. Hepatitis
- Hepatitis (plural hepatitides)
implies inflammation of the liver
characterized by the presence of
 inflammatory cells in the tissue
of the organ. Hepatitis is acute
when it lasts less than six months
and chronic when it persists
longer. A group of viruses
known as the hepatitis viruses
cause most cases of liver damage
worldwide. Hepatitis can also be
due to toxins (notably alcohol),
other infections or from
autoimmune process. The patient
becomes unwell and
symptomatic when the disease
impairs liver functions that
include, among other things,
removal of harmful substances,
regulation of blood composition,
and production of bile to help
digestion.
Treatment:
- there is no specific treatment for
hepatitis A. The doctor will recommend
the abstinence of alcohol and drugs
during recovery. Most cases of hepatitis
A resolve themselves spontaneously.
- The only treatment for hepatitis B is
rest, combined with a high protein/high
carbohydrate diet to repair damaged
liver cells and protect the liver. If
hepatitis B persists, the doctor may
recommend an antiviral agent called
interferon.
- The only approved treatment for
hepatitis C virus, and the only one with
demonstrated efficacy, is interferon
alfa-2b (Intron A).
- Currently, there is not effective
treatment for hepatitis D and E.
- For treatment of nonviral hepatitis, the
doctor will first remove the harmful
substance by flushing out the stomach
via inducing vomiting or
hyperventilation. If necessary, the
patient with drug-induced hepatitis will
be treated with corticosteroids.
f. Cirrhosis
- Cirrhosis is a consequence of
chronic liver disease
characterized by replacement of
liver tissue by fibrosis, scar tissue
and regenerative nodules (lumps
that occur as a result of a process
in which damaged tissue is
regenerated), leading to
progressive loss of liver function.
Cirrhosis is most commonly
caused by alcoholism, hepatitis B
and C, and fatty liver disease but
has many other possible causes.
Some cases are idiopathic, i.e., of
unknown cause.
Treatment:
- Alcoholic cirrhosis caused by
alcohol abuse is treated by
abstaining from alcohol.
Treatment for hepatitis-related
cirrhosis involves medications
used to treat the different types of
hepatitis, such as interferon for
viral hepatitis and corticosteroids
for autoimmune hepatitis.
Cirrhosis caused by Wilson's
disease, in which copper builds
up in organs, is treated with
chelation therapy (e.g.
penicillamine) to remove the
copper.
Nursing care of a child with
Problems in Metabolism
A. Congenital Adrenal Hyperplasia
- Congenital adrenal hyperplasia
(CAH) refers to any of several
autosomal recessive diseases
resulting from mutations of
genes for enzymes mediating the
 biochemical steps of production
of cortisol from cholesterol by
the adrenal glands
(steroidogenesis).
Treatment of all forms of CAH may
include any of:
1. supplying enough glucocorticoid
to reduce hyperplasia and
overproduction of androgens or
mineralocorticoids
2. providing replacement
mineralocorticoid and extra salt
if the person is deficient
3. providing replacement
testosterone or estrogen at
puberty if the person is deficient
4. additional treatments to optimize
growth by delaying puberty or
delaying bone maturation
5. genital reconstructive surgery to
correct problems produced by
abnormal genital structure
B. Defects in Metabolism
a. Hyperphenylalaninemia
- Hyperphenylalaninemia
is broadly defined as the
presence of blood
phenylalanine levels that
exceed the limits of the
upper reference range (2
mg/dL or 120 mmol/L)
but trail the levels found
in patients with
phenylketonuria (PKU)
- Determine the degree of
dietary phenylalanine
restriction for each
patient based on untreated
phenylalanine levels.
- Aspartame restriction
may be indicated.
- Do not restrict activities
- If dietary treatment is
necessary, refer the
patient to a dietitian
experienced with PKU
(usually a member of a
PKU treatment team).
- Pteridin. Some children
respond to BH4
supplementation.
Synthetic BH4
(sapropterin) is now
approved by the US Food
and Drug Administration.
Also consider restricting
use of drugs and food that
contain aspartame.
b. Classic Phenylketonuria
- Phenylketonuria (PKU) is
a genetic disorder that is
characterized by an
inability of the body to
utilize the essential amino
acid, phenylalanine.
Amino acids are the
building blocks for body
proteins. 'Essential' amino
acids can only be
obtained from the food
we eat as our body does
not normally produce
them. In 'classic PKU',
the enzyme that breaks
down phenylalanine
phenylalanine
hydroxylase, is
completely or nearly
completely deficient. This
enzyme normally
converts phenylalanine to
 another amino acid, level of all newborns at
tyrosine. Without this about 3 days of age. This
enzyme, phenylalanine test is one of several
and its' breakdown newborn screening tests
chemicals from other performed before or soon
enzyme routes, after discharge from the
accumulate in the blood hospital. Usually, a few
and body tissues. drops of blood are
Although the term obtained by a small prick
'hyperphenylalaninemia' on the heel, placed on a
strictly means elevated card, and then sent for
blood phenylalanine, it is measurement. If the
usually used to describe a screening test is
group of disorders other abnormal, other tests are
than classic PKU. These needed to confirm or
other disorders may be exclude PKU. Newborn
caused by a partial screening allows early
deficiency of the identification and early
phenylalanine breakdown implementation of
enzyme or the lack of treatment. The goal of
another enzyme important PKU treatment is to
to the processing of this maintain the blood level
amino acid. A normal of phenylalanine between
blood phenylalanine level 2 and 10 mg/dl. Some
is about 1 mg/dl. In phenylalanine is needed
classic PKU, levels may for normal growth. This
range from 6 to 80mg/dl, requires a diet that has
but are usually greater some phenylalanine but
than 30mg/dl. Levels are in much lower amounts
somewhat less in the than normal. High protein
other disorders of foods, such as: meat, fish,
hyperphenylalaninemia. poultry, eggs, cheese,
Chronically high levels of milk, dried beans, and
phenylalanine and some peas are avoided. Instead,
of its breakdown products measured amounts of
can cause significant cereals, starches, fruits,
brain problems. Classic and vegetables, along
PKU is the most common with a milk substitute are
cause of high levels of usually recommended.
phenylalanine in the Phenylalanine free
blood formulas are available for
all age groups. In some
Treatment: clinics, a phenylalanine
'challenge' may be
- Every state now screens suggested to evaluate
the blood phenylalanine whether or not the child
 continues to require a low
phenylalanine diet. This
test identifies those few
persons with a transient
or 'variant' form of the
disorder. However, most
authorities currently
recommend lifelong
dietary restriction of
phenylalanine for
individuals with classic
PKU, in order to promote
maximal development
and cognitive abilities.
b. Maple Syrup Urine Disease
- Maple syrup urine disease C. Defects in Metabolism of
(MSUD), also called
branched-chain
ketoaciduria, is an 1. Galactosemia
autosomal
recessivemetabolic
disorder affecting
branched-chain amino
acids. It is one type of
organic acidemia. The
condition gets its name
from the distinctive sweet
odor of affected infants'
urine.
Treatment:
- Keeping MSUD under
control requires careful
monitoring of blood
chemistry and involves
both a special diet and
frequent testing.
- A diet with minimal Treatment:
levels of the amino acids
leucine, isoleucine, and
valine must be
maintained in order to
prevent neurological
damage. As these three
amino acids are required
for proper metabolic
function in all people,
specialized protein
preparations containing
substitutes and adjusted
levels of the amino acids
have been synthesized
and tested, allowing
MSUD patients to meet
normal nutritional
requirements without
causing harm.
Carbohydrates
- Galactosemia is a rare
genetic metabolic
disorder that affects an
individual's ability to
metabolize the sugar
galactose properly.
Galactosemia should not
be confused nor related to
Lactose-Intolerance.
Galactosemia follows an
autosomal recessive mode
of inheritance that confers
a deficiency in an enzyme
responsible for adequate
galactose degradation.
- The only treatment for
classic galactosemia is
eliminating lactose and
galactose from the diet.
 Even with an early
diagnosis and a restricted
diet, however, some
individuals with
galactosemia experience
long-term complications
such as speech
difficulties, learning
disabilities, neurological
impairment (e.g. tremors,
etc), and in girls, ovarian
failure.
2. Lactose Intolerance
- Lactose intolerance is the
inability to metabolize
lactose, because of a lack
of the required enzyme
lactase in the digestive
system.
Treatment:
- Limit the amount of milk
and milk products in your
diet. Most people can
have about 10 g of lactose
each day. This can be a
glass of whole, low-fat, or
nonfat milk, for example.
All milk contains the
same amount of lactose.
- Eat or drink milk and
milk products along with
other foods. For some
people, combining a solid
food (like cereal) with a
dairy product (like milk)
may reduce or eliminate
symptoms.
- Spread milk or milk
products throughout the
day. Many people who
are lactose-intolerant find
it helpful to eat small
amounts of lactose-
containing products
throughout the day
instead of larger amounts
all at one time.
- Eat or drink milk and
milk products that have
reduced lactose. In most
grocery stores, you can
buy milk with reduced
lactose. Some people like
buying this kind of milk
and find that it helps
control their symptoms.
Others find that it tastes
too sweet or is too
expensive. People with
diabetes may find that
lactose-reduced milk
raises their blood sugar
levels higher than normal.
- Eat or drink other foods
instead of milk and milk
products. You can
substitute soy milk and
soy cheese for milk and
milk products. You can
also use nondairy
creamers in your coffee.
But keep in mind that
nondairy creamers do not
contain the same vitamins
and minerals as milk, and
they may contain more fat
than milk contains.
D. Tay Sachs Disease
o Tay-Sachs disease
(abbreviated TSD,
also known as GM2
gangliosidosis or
Hexosaminidase A
deficiency) is an
autosomal recessive
genetic disorder. In its
 most common variant sampling or amniocentesis. If an
known as infantile actual mutation has been
Tay-Sachs disease, it identified in both parents, then
presents a relentless more precise mutational analysis
deterioration of techniques using PCR are
mental and physical available.
abilities which
commences at 6 Sources:
months of age and
usually results in www.en.wikipedia.com.
death by the age of
four. www.merck.com

Treatment: www.emedicine.com

- Carrier testing seeks to detect Adele Pillitteri. Maternal and Child

whether an individual unaffected Health Nursing. 5th Edition. Volume 2.
by the disease is carrying one
copy of a mutation. Many www.ehow.com
individuals seeking carrier
screening are couples from at-
risk populations who are seeking
to start a family. Some
individuals and couples who seek
carrier screening are aware of
test results or genetic disease in
ancestors or living family
members.
- Prenatal testing seeks to
determine whether the fetus has
inherited two defective copies,
one from each parent. In prenatal
testing, there is generally greater
information about family history
and the mutations are often
known precisely. Prenatal testing
for TSD is usually undertaken
when both parents cannot be
ruled out as possible carriers. In
some cases, the mother's carrier
status may be known, while the
father is unknown or unavailable
for testing. Prenatal testing can
be performed by assay of HEX A
enzyme activity in fetal cells
obtained by chorionic villus