PROTEIN 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 protein metabolism used for in the human body?

Amino acids are the building blocks of proteins and have many functions in the body. Hereditary disorders of amino acid processing can result from defects either in the breakdown of amino acids or in the body's ability to get amino acids into cells. Because these disorders cause symptoms early in life, newborns are routinely screened for several common ones. In the United States, newborns are commonly screened for phenylketonuria, maple syrup urine disease, homocystinuria, tyrosinemia, and a number of other inherited disorders, although screening varies from state to state

PROTEIN METABOLISM IN RELATION TO MEDICAL TECHNOLOGY

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

Phenylketonuria Maple syrup urine disease Homocystinuria Tyrosinemia

Phenylketonuria (PKU)

• Phenylketonuria (fen-ul-ke-toe-NU-re-uh), also called PKU, is a rare inherited disorder that causes an amino acid called phenylalanine to build up in your body. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine.

• Without the enzyme necessary to process phenylalanine, a dangerous buildup can develop when a person with PKU eats foods that are high in protein. This can eventually lead to serious health problems.

• For the rest of their lives, people with PKU — babies, children and adults — need to follow a diet that limits phenylalanine, which is found mostly in foods that contain protein.

Screening for PKUAll babies born in the UK and other developed countries are routinely screened for high phenylalanine levels. This is done using the heel prick test and is carried out during the first week of a baby’s life.During the test, a blood sample is taken from the baby’s heel to test for a number of rare but serious conditions, including PKU.If phenylketonuria is picked up, further tests will be arranged to confirm the diagnosis.The main treatment for PKU is a low-protein diet that completely avoids high-protein foods – such as meat, eggs and dairy products – and controls the intake of many other foods, such as potatoes and cereals.

Maple Syrup Urine Disease

• Maple syrup urine disease (MSUD) is a rare, inherited metabolic disorder. With MSUD, the body cannot break down certain amino acids. Individuals who have the disease produce urine that has a distinctive maple syrup odor.

• Amino acids are what remain after your body digests the protein from the food you eat. Special enzymes process the amino acids so they can be used to maintain all of your body functions.

• If some of the necessary enzymes are missing or defective, the amino acids and their byproducts, called keto acids, collect in the body. As the levels of these substances increase, neurological damage, coma, and life-threatening conditions can result.

• Follow-up testing after newborn screening will involve checking your baby’s urine and blood samples for harmful amounts of acids and toxins. Certain acids and toxins build up in the body when a child has an amino acid condition, so measuring the amounts of these substances in your baby’s body can help doctors determine if your baby has a condition. High amounts of branch-chained amino acids in the blood and ketones in the urine might indicate that your baby has MSUD.

Homocystinuria

• Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic cause. The most common form of homocystinuria is characterized by nearsightedness (myopia), dislocation of the lens at the front of the eye, an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems.

TestsYour doctor may also order a series of tests to determine if your child is affected. These tests may include:•an X-ray to look for signs of osteoporsis•genetic testing to look for one of the genes involved in the disorder•a liver biopsy and enzyme assay to check enzymatic activity•an amino acid screen (blood and urine) to check for excess homocysteine•a skin biopsy (fibroblast culture)TreatmentCan Homocystinuria Be Treated?There is no cure for homocystinuria. For about half of the people with this disorder, high doses of vitamin B6 are a successful treatment. If you respond well to this supplementation, it is likely that you will have to use daily vitamin B6 supplements for the rest of your life.

Tyrosinemia

• Hereditary tyrosinemia is a genetic inborn error of metabolism associated with severe liver disease in infancy. The disease is inherited in an autosomal recessive fashion which means that in order to have the disease, a child must inherit two defective genes, one from each parent. In families where both parents are carriers of the gene for the disease, there is a one in four risk that a child will have tyrosinemia.

Diagnose

The diagnosis of tyrosinemia is based on blood and urine tests. In both the acute and chronic forms of the disease, liver function tests are often abnormal. Low serum albumin and clotting factors are also frequently found. Transaminase levels in the blood may be mildly to moderately elevated, and the bilirubin level is increased to a variable extent. Because of the biochemical defect, abnormal products may be measured in the urine which confirm the diagnosis.

Treatment

It is customary to place affected infants on diets low in phenylalanine, methionine and tyrosine. Given tyrosine is found in meats, dairy products, and other protein rich foods such as nuts and beans they should be avoided. Strict attention to nutrition and adequate vitamin and mineral intake do not cure tyrosinemia, but serve to control the metabolic abnormalities and support normal development and growth.

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