Hanyang Med Rev.  2005 Aug;25(3):65-78.

Amino acid metabolism disorders

• Lee DH

Abstract

Deficiencies of enzymes involved in amino acid metabolism frequently result in accumulation of toxic substances and subsequent organ damage. The brain, liver and kidneys are the most frequently affected organs. Acute symptoms are often associated with catabolic states that lead to the breakdown of endogenous proteins and the release of large amounts of amino acids. The clinical features result from the toxicity of the deficiency, and the extent of protein intake or endogenous amino acid release in protein compensation. Many disorders of this group are recognised by neonatal screening with tandem MS. Most aminoacidopathies are caused by deficiencies of cytosolic enzymes and are recognised by amino acid analysis in plasma (or urine). Treatment usually involves(a) protein restriction, (b) supplementation of amino acids with unimpaired metabolism as well as trace elements, and (c) specific measures for detoxification if indicated. Treatment is not restricted to childhood but usually must be continued throughout life.

Keyword

Amino acid metabolism; Phenylketonuria; Urea cycle defects; Maple syrup urine disease; Homocystinuria

MeSH Terms

Amino Acids
Brain
Compensation and Redress
Cytosol
Homocystinuria
Infant, Newborn
Kidney
Liver
Maple Syrup Urine Disease
Metabolism*
Neonatal Screening
Phenylketonurias
Plasma
Trace Elements
Amino Acids
Trace Elements