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BCHM 212 Assignment - Disorders of Carbohydrate Metabolism by Ug18phph1040
BCHM 212 Assignment - Disorders of Carbohydrate Metabolism by Ug18phph1040
Introduction:
Metabolism is the process by which the body makes energy from diet. Food is made up of proteins,
carbohydrates, and fats. Chemicals in the digestive system (enzymes) break the food parts down into
sugars and acids, the body's fuel. The body either uses this fuel right away, or it can store the energy in
tissues. In the event of a metabolic disorder, something goes wrong with this process.
Carbohydrate metabolism disorders are a group of metabolic disorders. Normally, bodily enzymes break
carbohydrates down into glucose (a type of sugar). In the prescence of one of these disorders, one may
not have enough enzymes to break down the carbohydrates. Or the enzymes may not work properly.
This causes a harmful amount of sugar to build up in the body. That can lead to health problems, some
of which can be serious. Some of the disorders are fatal.
These disorders are inherited. Newborn babies get screened for many of them, using blood tests. If
there is a family history of one of these disorders, parents can get genetic testing to see whether they
carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the
disorder.
Treatments may include special diets, supplements, and medicines. Some babies may also need
additional treatments, if there are complications. For some disorders, there is no cure, but treatments
may help with symptoms.
1. Galactosemia
4. Sucrase-Isomaltase defect
Hereditary fructose intolerance
6. Hunter syndrome
7. Scheie syndrome
8. McArdle syndrome
9. Morquio syndrome
1. GALACTOSEMIA
Galactosemia is a condition in which the body is unable to use (metabolize) the simple sugar galactose.
Causes of Galactosemia:
Galactosemia is an inherited disorder. It is passed down through families. If both parents carry a
nonworking copy of the gene that can cause galactosemia, each of their children has a 25% (1 in 4)
chance of being affected with it.
1. Galactose-1 phosphate uridyl transferase (GALT) deficiency: Classic galactosemia, the most common
and most severe form
People with galactosemia are unable to fully break down the simple sugar galactose. Galactose makes
up one half of lactose, the sugar found in milk.
If an infant with galactosemia is given milk, substances made from galactose build up in the infant's
system. These substances damage the liver, brain, kidneys, and eyes.
People with galactosemia cannot tolerate any form of milk (human or animal). They must be careful
about eating other foods containing galactose.
TREATMENT
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 ovarian failure. Symptoms have not been associated with Duarte galactosemia, and
many individuals with Duarte galactosemia do not need to restrict their diet at all. However, research
corroborates a previously overlooked theory that Duarte galactosemia may lead to language
developmental issues in children with no clinical and symptoms. Infants with classic galactosemia cannot
be breast-fed due to lactose in human breast milk and are usually fed a soy-based formula.
Galactosemia is sometimes confused with lactose intolerance, but galactosemia is a more serious
condition. Lactose intolerant individuals have an acquired or inherited shortage of the enzyme lactase,
and experience abdominal pains after ingesting dairy products, but no long-term effects. In contrast, a
galactosemic individual who consumes galactose can cause permanent damage to their bodies.
Speech deficits, ataxia, dysmetria, diminished bone density, premature ovarian failure and cataract.
Lactose intolerance is an impaired ability to digest lactose, a sugar found in milk and other dairy
products. Lactose is normally broken down by an enzyme called lactase, which is produced by cells in
the lining of the small intestine.
Congenital lactase deficiency, also called congenital alactasia, is a disorder in which infants are unable to
break down lactose in breast milk or formula. This form of lactose intolerance results in severe diarrhea.
If affected infants are not given a lactose-free infant formula, they may develop severe dehydration and
weight loss.
Lactose intolerance in adulthood is caused by reduced production of lactase after infancy (lactase
nonpersistence). If individuals with lactose intolerance consume lactose-containing dairy products, they
may experience abdominal pain, bloating, flatulence, nausea, and diarrhea beginning 30 minutes to 2
hours later.
Most people with lactase nonpersistence retain some lactase activity and can include varying amounts
of lactose in their diets without experiencing symptoms. Often, affected individuals have difficulty
digesting fresh milk but can eat certain dairy products such as cheese or yogurt without discomfort.
These foods are made using fermentation processes that break down much of the lactose in milk.
Causes
Lactose intolerance in infants (congenital lactase deficiency) is caused by mutations in the LCT gene. The
LCT gene provides instructions for making the lactase enzyme. Mutations that cause congenital lactase
deficiency are believed to interfere with the function of lactase, causing affected infants to have a
severely impaired ability to digest lactose in breast milk or formula.
Lactose intolerance in adulthood is caused by gradually decreasing activity (expression) of the LCT gene
after infancy, which occurs in most humans. LCT gene expression is controlled by a DNA sequence called
a regulatory element, which is located within a nearby gene called MCM6. Some individuals have
inherited changes in this element that lead to sustained lactase production in the small intestine and the
ability to digest lactose throughout life. People without these changes have a reduced ability to digest
lactose as they get older, resulting in the signs and symptoms of lactose intolerance.
TREATMENT
There's no cure for lactose intolerance, but most people are able to control their symptoms by making
changes to their diet.
Some cases of lactose intolerance, such as those caused by gastroenteritis, are only temporary and will
improve within a few days or weeks.
Other cases, such as those caused by an inherited genetic fault or a long-term underlying condition, are
likely to be long-lasting.