LIPID METABOLISM TO

MEDICAL TECHNOLOGY

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.

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.

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.

LIPID METABOLISM IN RELATION TO MEDICAL TECHNOLOGY

THE FOLLOWING ARE SOME OF THE TESTS PERFORMED BY MEDICAL TECHNOLOGISTS INVOLVING LIPID MTABOLISM::

GAUCHER'S DISEASETAY-SACHS DISEASENIEMANN-PICK DISEASEFATTY ACID OXIDATION DISORDER

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.

Tests and diagnosisDuring 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 testsBlood 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 testsPeople 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.

TAY-SACHS DISEASETay-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.

How It Is DoneThe health professional taking a sample of your bloodThe 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.

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.

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.

Exams and TestsA 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 aspirationLiver biopsy (usually not needed)Slit-lamp eye examSphingomyelinase assays

TreatmentAt this time, there is no effective treatment

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).

DiagnosisInfants, 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/ServicesThe 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.

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