The document discusses lipid metabolism and its relation to medical technology and several genetic disorders. It provides details on tests performed by medical technologists to diagnose lipid storage disorders like Gaucher's disease, Tay-Sachs disease, Niemann-Pick disease, and fatty acid oxidation disorders. The tests analyze enzymes involved in breaking down lipids and measure their levels in blood and other samples. Identifying deficits in these enzymes through newborn screening and testing helps confirm diagnoses and guide treatment of the disorders.

1. LIPID METABOLISM
TO
MEDICAL TECHNOLOGY

2. What is Medical Technology ?
Medical Technology, which is a proper subset of health
technology, encompasses a wide range of healthcare products
and is used to diagnose, monitor or treat diseases or medical
conditions affecting humans.

3. What is Medical Technologists ?
Medical Technologists, also known as clinical laboratory
technologists, perform and analyze the results of complex
scientific tests on blood and body fluids.

4. What is lipid metabolism used for in the human
body?
• Fats (lipids) are an important source of energy for the body. The
body's store of fat is constantly broken down and reassembled
to balance the body's energy needs with the food available.
• Disorders caused by the accumulation of lipids are called lipidoses.
Other enzyme abnormalities prevent the body from converting fats
into energy normally. These abnormalities are called fatty acid
oxidation disorders.

5. LIPID METABOLISM IN RELATION TO
MEDICAL TECHNOLOGY
THE FOLLOWING ARE SOME OF THE TESTS PERFORMED BY MEDICAL
TECHNOLOGISTS INVOLVING LIPID MTABOLISM::
GAUCHER'S DISEASE
TAY-SACHS DISEASE
NIEMANN-PICK DISEASE
FATTY ACID OXIDATION DISORDER

6. Gaucher's disease
Gaucher's (go-SHAYZ) disease is the result of a buildup of certain fatty
substances in certain organs, particularly your spleen and liver. This
causes these organs to become much larger than normal and can affect
their function.
The fatty substances associated with Gaucher's disease also can build
up in bone tissue. This weakens the bone and increases the risk of
fractures. If the bone marrow is affected, it can interfere with your
blood's ability to clot.

7. Tests and diagnosis
During a physical exam, your doctor will press on you or your child's abdomen to check the
size of the spleen and liver. He or she might also recommend certain lab tests, imaging
scans and genetic counseling.
Lab tests
Blood samples can be checked for levels of the enzyme associated with Gaucher's disease.
Genetic analysis can also reveal whether you have the disease.
Imaging tests
People diagnosed with Gaucher's disease typically require periodic tests to track its
progression. These may include imaging tests such as:
Dual energy X-ray absorptiometry (DXA). This test uses low-level X-rays to measure bone
density.
Magnetic resonance imaging (MRI). Using radio waves and a strong magnetic field, an MRI
can show whether the spleen or liver is enlarged, and if bone marrow has been affected.

8. TAY-SACHS DISEASE
Tay-Sachs disease is a rare, inherited disorder. It causes too
much of a fatty substance to build up in the brain. This buildup
destroys nerve cells, causing mental and physical problems.
Infants with Tay-Sachs disease appear to develop normally for
the first few months of life. Then mental and physical abilities
decline. The child becomes blind, deaf, and unable to swallow.
Muscles begin to waste away and paralysis sets in. Even with
the best of care, children with Tay-Sachs disease usually die by
age 4.

9. How It Is Done
The health professional taking a sample of your blood
The test for Tay-Sachs disease measures the amount of an enzyme called
hexosaminidase A (hex A) in the blood. Hex A breaks down fatty substances
in the brain and nerves. Tay-Sachs is an inherited disease in which the body
can't break down fatty substances as it should, so the fatty substances
collect in the nerve cells of the brain and damage them.
A Tay-Sachs test may also measure the amount of another enzyme, called
hexosaminidase B. People who cannot make either hex A or B have a
condition called Sandhoff's disease.
The Tay-Sachs enzyme test is usually done on blood taken from a vein or
from the umbilical cord right after birth.

10. Results
Enzyme measured Normal value
Amount in blood: Total hexosaminidase (A+B) 9.8–15.9 units per liter (U/L)
Amount in blood: Hexosaminidase A 7.2–9.8 units per liter (U/L)
• A person who has about half the normal amount of hex A is a
Tay-Sachs carrier.
• A person who does not have any hex A has Tay-Sachs disease.
• In rare cases, a person may not have either the hex A or hex B
enzyme. This causes a condition called Sandhoff's disease.

11. Niemann-Pick disease
• Niemann-Pick disease is a group of diseases passed down through families
(inherited) in which fatty substances called lipids collect in the cells of the
spleen, liver, and brain.
• There are four most commonly recognized forms of the disease: Types A,
B, C, and D.
• Types A and B are also called Type I.
• Types C and D are also known as Type II.
• Each type involves different organs. It may or may not involve your
nervous system and breathing. Each one can cause different symptoms
and may occur at different times throughout life.

12. Exams and Tests
A blood or bone marrow test can be done to diagnose types A and B. The test can tell who has the
disease, but does not show if you are a carrier. DNA tests can be done to diagnose carriers of types
A and B.
A skin biopsy is usually done to diagnose types C and D. The health care provider watches how the
skin cells grow, move, and store cholesterol. DNA tests may also be done to look for the two genes
that cause this type
Other tests might include:
Bone marrow aspiration
Liver biopsy (usually not needed)
Slit-lamp eye exam
Sphingomyelinase assays
Treatment
At this time, there is no effective treatment

13. FATTY ACID OXIDATION DISORDERS
• Fatty acid oxidation disorders are caused by a lack or deficiency of the
enzymes needed to break down fats, resulting in delayed mental and
physical development.
• Several enzymes help break down fats so that they may be turned
into energy. An inherited defect or deficiency of one of these
enzymes leaves the body short of energy and allows breakdown
products, such as acyl-CoA, to accumulate. The enzyme most
commonly deficient is medium chain acyl-CoA dehydrogenase
(MCAD). Other enzyme deficiencies include short chain acyl-CoA-
dehydrogenase deficiency (SCAD), long chain-3-hydroxyacyl-CoA-
deficiency (LCHAD), and trifunctional protein deficiency (TFP).

14. Diagnosis
Infants, children and even adults with symptoms suggesting a fatty acid
oxidation disorder can be tested with a blood or urine sample. If FOD-
type abnormalities are found, further testing will be needed. Diagnosis
is confirmed by measuring the amount and type of enzyme activity.
Through early detection and prompt treatment, many serious effects of
FODs can be prevented. Many forms of fatty acid oxidation disorders
are first identified by newborn screening.
Treatment/Services
The goal of FOD treatment is to get enough food and avoid fasting,
while not allowing the fat levels to build up. The treatment itself
consists of four main parts: diet, formula, supplements, monitoring.

15. Prepared by:
Mercado, Princess Cate R.
Alejandrino, Ma. Lourdes F.
Aspillaga, Liezel