Amino Acid Disorders Screening Health Article

Abnormal results

The blood plasma amino acid pattern is abnormal in overflow aminoaciduria and is normal in renal aminoaciduria. The pattern is abnormal in the urine test, suggesting additional tests need to be done to determine which amino acids are involved. In addition to PKU, a variety of other amino acid metabolism disorders can be detected by these tests, including tyrosinosis, histidinemia, maple syrup urine disease, hypervalinemia, hyperprolinemia, and homocystinuria.

BOOKS

Everything You Need to Know About Medical Tests. Ed. Michael Shaw, et al. Springhouse, PA: Springhouse Corporation, 1996.

A Manual of Laboratory and Diagnostic Tests. 5th ed. Ed. Francis Fishback. Philadelphia: Lippincott, 1996.

ORGANIZATIONS

Association for Neuro-Metabolic Disorders. 5223 Brookfield Lane, Sylvania, OH 43560-1809. (419) 885-1497.

Children's PKU Network (CPN). 3790 Via De La Valle, Ste 120, Del Mar, CA 92014. (800) 377-6677. <http://www.pkunetwork.org/>.

National Phenylketonuria Foundation. 6301 Tejas Drive, Pasadena, TX 77503. (713) 487-4802.

Tish Davidson

KEY TERMS

Amino acid—An organic compound composed of both an amino group and an acidic carboxyl group; amino acids are the basic building blocks of proteins.

Aminoaciduria—The abnormal presence of amino acids in the urine.

Chromatography—A family of laboratory techniques that separate mixtures of chemicals into their individual components.

Enzyme—A biological catalyst that increases the rate of a chemical reaction without being used up in the reaction.

Metabolism—The sum of all the chemical and energy reactions that take place in the human body.