BIOCHEMISTRY

 Relationship vit D gonads

GLYCOLIPIDS  Skin – present si vitamin D sa skin it just
 Carbohydrates + lipids need sunlight to digest and form into D3
 consists of a lipid molecule linked to one or (cholecalciferol)
more sugar (carbohydrate) molecules  Present in bile gallstone
 Bile – digest fat
TYPES OF GLYCOLIPIDS  Gallstone – Cannot digest because of
1. Sphingosine too much fat eating (cholelitiasis)
 Building block of more complex lipids  “ chole”
known as sphingolipids.  Cholesterol ester – acyl CoA – acyl
 Plays a crucial role in various cellular transferase (LCAT)
processes, including cell structure and  Lecithin + cholesterol – LCAT lecithin
signaling. cholesterol acyl transferase – cholesterol ester +
lysolecithin
2. Cerebrosides  acyl transferase – helps to absorb fats in
 white matter, transmission of nerve intestine.
impulses  C27H45OH
 consist of a single sugar molecule (usually  Double bond C5 and C6
glucose or galactose)  White or Faint yellow
 important for the insulation of nerve fibers  Odorless
and the formation of the myelin sheath.  Nonelectrolyte – poor conductor of electricity
o cerebron
o nervon STEROIDS
o oxynervon  associated with fats
o kerasin  Complex ring forms - cyclopentano perhydro
phenanthrene (CPPP)
3. Gangliosides
 gray matter of brain. TYPES OF STEROIDS
 Carbs made up of lipid  Sterols- cholesterol
 Galactose  Bile acids- glycocholic acid and taurocholic acid
 neuronal bodies, RBC, dendrites  Sex hormones- estrogen, testosterone
 Galactose, N- acetylgalactosamine, N-  Vitamin D- Vitamin D2 and vitamin D3
acetylneuraminic acid  Adrenocortical hormonal – corticosterone
o GM-1  Saponins- digitonin
o GM-2  Cardiac glycosides- stropanthin
o GM-3
o GM-4 VITAMIN D3/ CHOLECALCIFEROL
 Influence the metabolic process of  7- dehydrocholesterol / Provitamin D3
circulating hormones  Sterol present in skin, intestinal wall
 Uv rays of sunlight – provitamin
CHOLESTEROL D3/precholecalciferol – cholecalciferol
 Widely present in body Vitamin D3
 Brain, nervous tissue, skin, intestinal mucosa,
adrenal cortex, corpus leteum ERGOSTEROL
 Egg yolk, butter, milk, meat  Plant sterol
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 Fungi – yeast – mushroom
 Differs from provitamin D3 in the Side chain of
the nucleus
 Uv light – opening of the ring B of the sterol –
vitamin D2/ ergosterol
TEST FOR LIPIDS
SOLUBILITY TESTS
 Solubility with water – lipids are immiscible in
water, indicating the presence of oil or fat in
samples
 Solubility with alcohol – lipids form a lower
layer in alcohol. Heat them the samples are
dissolved on heating, indicating the presence of
oil or fat in the samples
 Solubility with chloroform – lipids are
miscible in chloroform, indicating the presence
of oil or fat in the samples
Principles: due to hydrophobic nature of lipids they
are insoluble in water and are soluble in organic
solution
LIEBERMANN- BURCHARD TEST
 Chloroform solution of sterol,
 Concentrated sulfuric acid + acetic anhydride =
grass green color
 Cholesterol in the presence of concentrated
sulfuric acid and acetic anhydride producing
colored product which is blue-green
(chromophore)
 Sterols will give grass green color
 Colorimetric reaction (emerald green)
SALKOWSKI TEST
 Chloroform solution of cholesterol
 Concentrated sulfuric acid – heavier acid layer
below will exhibit a green fluorescence, on the
upper will be the chloroform that will develop a
cherry red to purple color
FORMALDEHYDE- SULFURIC ACID TEST
 Chloroform solution of cholesterol
 Formaldehyde: sulfuric acid mixture (1:50)
 Chloroform layer cherry red
 chloroform layer + acetic anhydride – color
change from red – blue
LIPSCHUTZ REACTION
 Boil glacial acetic acid with cholesterol + drops
of benzoyl peroxide
 Concentrated sulfuric acid – red oxycholesterol
will react with acid – blue
ZAK’S REACTION
 Glacial acetic acid with cholesterol
 Sulfuric acid and ferric chloride – red color
SAPONIFICATION TEST
 Lipids upon alkaline hydrolysis release glycerol
and fatty acids. Later sodium (Na+) or
potassium (K+) ions combines with fatty acids
to form “soap” (foam).
 Take approximately 100 mg of oil or fat in test
tube. Add 3mL of alcoholic KOH and mix well.
Place the tube in a boiling water bath for 15-20
minutes
 Appearance of foamy solution indicates
the presence of oil or fat
ACROLEINS TEST
 Formation of acrolein or acrylic aldehyde that
has the characteristics pungent odor is the key
principle. On general upon heating with
potassium bisulphate produce acrolein
 When oil and fats treated strongly in presence of
dehydrating agent like potassium bisulphate, the
glycerol portion of the molecule is dehydrated to
form an unsaturated aldehyde, acrolein which
has a pungent irritating odor.
 Take approximately 100 mg of test sample in a
test tube and add a pinch of potassium
bisulphate and mix well. Heat the mixture over
a bunsen burner for 1-2 minutes
 Release of pungent odor indicates
presence of glycerol
HUBL'S IODINE TEST
 This test is mainly helpful to assess the
unsaturation in. a given oil sample. The two
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principles that will explain the reaction
mechanism are given below.
Principle
 Bromine or iodine upon reacting with
unsaturated fatty acids produce di-halo
adducts. Consumption of more bromine
indicates the higher percentage of unsaturation.
 Decolorization of alkaline potassium
permanganate is also an indirect measure of
unsaturation in fatty acids, where unsaturated
fatty acids undergo incomplete oxidation.
 Decoloration of KMNO4 or bromine water
indicates the presence of unsaturated fats or
fatty acids
 No decoloration indicates the presence of
saturated fats or fatty acids
DISEASES ASSOCIATED WITH LIPIDS
GAUCHER’S DISEASE
 Gaucher disease is an inherited lysosomal
storage disorder (LSD), a that causes fatty
substances (sphingolipids) to build up in your
bone marrow, liver and spleen.
 The sphingolipids weaken bones and enlarge
the organs
TYPE 1
 Gaucher disease type 1 affects the spleen, liver,
blood and bones.
 It doesn’t affect your brain or spinal cord.
 For some people, symptoms are mild. Other
people experience severe bruising, fatigue and
pain, especially in their bones and abdomen
 Symptoms can appear at any age, from early
childhood to late adulthood.
TYPE 2
 A rare form of the disorder, Gaucher disease
type 2 appears in babies younger than 6 months
old.
 It causes an enlarged spleen, movement
problems and severe brain damage.
 There’s no treatment for Gaucher disease type 2.
 Babies with this condition usually pass away
within two to three years
TYPE 3
 Worldwide, Gaucher disease type 3 is the most
common form
 It appears before age 10 and causes bone and
organ abnormalities and neurological (brain)
problems.
 Treatments can help many people with Gaucher
disease type 3 live into their 20s or 30s.
CAUSES
 Gaucher disease is an inherited metabolic
disorder.
 A genetic change (mutation) in the GBA gene
causes the disease.
 The GBA gene is responsible for making an
enzyme called glucocerebrosidase (GCase).
 People with Gaucher disease don’t have enough
of this enzyme.
 Enzymes like GCase are proteins that perform
several tasks, including breaking down fats
(sphingolipids) in your body.
 The body doesn’t have enough of these
enzymes, fatty chemicals (called Gaucher
cells) build up in your organs, bone marrow and
brain.
 The excess fats cause a wide range of problems
and symptoms. They affect how organs work,
and destroy blood cells and weaken bones.
SIGNS AND SYMPTOMS
 Anemia: As lipids build up in bone marrow,
they destroy red blood cells. Red blood cells
carry oxygen throughout body.
 Enlarged organs: spleen and liver get bigger as
fatty chemicals build up, which causes
abdominal enlargement and tenderness.
 An enlarged spleen destroys platelets leading to
a low platelet count and bleeding problems.
 Bruising, bleeding and clotting issues: A low
platelet count causes people with Gaucher
disease to bruise easily. Their blood doesn’t
clot like it should. They’re at risk of heavy or
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prolonged bleeding, even after minor injuries,
surgery or nosebleeds.
 Fatigue: As a result of anemia, people with
Gaucher disease often experience fatigue
 Lung problems: Fatty chemicals accumulate in
lungs and make it difficult to breathe.
PROBLEMS AFFECTING BONES
 Pain: Decreased blood flow causes pain in the
bones. Arthritis, joint pain and joint damage
are common signs of Gaucher disease.
 Osteonecrosis: This condition, also known as
avascular necrosis, results from a lack of
oxygen reaching your bones. Without enough
oxygen, bone tissue fractures into tiny pieces
and dies.
 Bones that fracture easily: Gaucher disease
causes osteoporosis, a condition that occurs
when your bones don’t get enough calcium.
With osteoporosis (and osteopenia, a mild form
of osteoporosis), bones can break easily.
Weakened bones can lead to skeletal
abnormalities.
PROBLEMS AFFECTING BRAIN
 Neurological symptoms of Gaucher disease
includes
 Feeding challenges and developmental delays
(in babies with Gaucher disease type 2).
 Cognitive difficulties.
 Eye problems, specifically when moving eyes
from side to side.
 Problems with gross motor skills and
coordination.
 Seizures, muscle spasms and quick, jerky
movements.
DIAGNOSIS
 check for enzyme levels
 DNA test to see if the gene mutations causing
Gaucher disease are present.
 Gaucher disease carriers don’t have any
symptoms, but they can pass the disease to their
children. Consider these problem if patient is
planning to have a child
TREATMENT
 Enzyme replacement therapy
 People with Gaucher disease need ERT
regularly (every two weeks) for treatment to be
effective. It is administered thru IV
 During ERT, the enzyme is delivered directly
into bloodstream from where it can reach organs
and bones.
 This will prevent buildup of fats
SUBSTRATE REPLACEMENT THERAPY
 This treatment decreases fatty chemicals so they
can’t build up in the body.
 Take SRT medication orally.
 Continue taking the medication regularly to
prevent damage to the body.
 Researchers are actively developing several new
therapies using genetic engineering and stem
cell technologies
NIEMANN PICK DISEASE
 Niemann-Pick is a rare, inherited disease that
affects the body's ability to metabolize fat
(cholesterol and lipids) within cells.
 These cells malfunction and, over time, die.
 Niemann-Pick disease can affect the brain,
nerves, liver, spleen, bone marrow and, in
severe cases, lungs.
 People with this condition experience symptoms
related to progressive loss of function of
nerves, the brain and other organs.
 Niemann-Pick can occur at any age but mainly
affects children. The disease has no known
cure and is sometimes fatal. Treatment is
focused on helping people live with their
symptoms.
CAUSES
 Niemann-Pick is caused by mutations in specific
genes related to how the body metabolizes fat
(cholesterol and lipids).
 The Niemann-Pick gene mutations are passed
from parents to children in a pattern called
autosomal recessive inheritance.
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 This means that both the mother and the father
must pass on the defective form of the gene for
the child to be affected.
 Niemann-Pick is a progressive disease, and
there is no cure. It can occur at any age
SIGNS AND SYMPTOMS
 Clumsiness and difficulty walking
 Excessive muscle contractions (dystonia) or eye
movements
 Sleep disturbances
 Difficulty swallowing and eating
 Recurrent pneumonia
TYPE A
 Some infants with type A will show signs and
symptoms within the first few months of life.
 Type A occurs mainly in infants, who show
severe, progressive brain disease. There is no
cure, so most children do not live beyond their
first few years.
 Types A and B are caused by a missing or
malfunctioning enzyme called
sphingomyelinase.
 This affects the body's ability to metabolize fat
(cholesterol and lipids), resulting in a buildup of
fat in cells. This causes cell dysfunction and,
over time, cell death.
TYPE B
 Those with type B may not show signs for years
and have a better chance of surviving to
adulthood
 Type B usually occurs later in childhood and is
not associated with primary brain disease.
Most people affected with type B survive into
adulthood.
 Types A and B are caused by a missing or
malfunctioning enzyme called
sphingomyelinase.
 This affects the body's ability to metabolize fat
(cholesterol and lipids), resulting in a buildup of
fat in cells. This causes cell dysfunction and,
over time, cell death
TYPE C
 People with type C may not experience any
symptoms until adulthood.
 Niemann-Pick type C is a rare inherited
disease.
 The genetic mutations of this type cause
cholesterol and other fats to accumulate in the
liver, spleen or lungs.
 The brain is also affected
DIAGNOSTIC TEST
 Diagnostic techniques depend on the type of
Niemann-Pick disease.
 For Type A or B. Using a blood or skin sample
(biopsy), experts measure how much
sphingomyelinase is in white blood cells to
confirm the diagnosis.
 Type C. Experts take a small sample of skin to
test for Niemann-Pick to assess how the cells
move and store cholesterol
 Magnetic resonance imaging (MRI). An MRI
of the brain may show loss of brain cells. But in
the early stages of Niemann-Pick, an MRI may
be normal because symptoms typically occur
before the loss of brain cells.
 Eye exam. An eye exam can show signs that
may be an indication of NiemannPick disease,
such as eye movement difficulties.
 Genetic testing. DNA testing of a blood sample
may show the specific abnormal genes that
cause Niemann-Pick types A, B and C. DNA
tests can show who the carriers are for all types
of Niemann-Pick disease if the mutations have
been described in the first person identified in a
family (the index case).
 Prenatal testing. Ultrasound can detect the
enlarged liver and spleen that's caused by type
C. And amniocentesis or chorionic villus
sampling may be used to confirm a diagnosis of
Niemann-Pick
TREATMENT
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 Physical therapy is an important part of
treatment to help maintain mobility as long as
possible.
 People with Niemann-Pick disease need to see
their doctors regularly, because the disease
progresses and symptoms worsen.