Amino Acid Metabolism

Amino acid metabolism disease is aminoacidopathy, or aminoaciduria. Can be divided into two categories: one is the enzyme defect, which blocks amino acid catabolism, and the other is the defect of the amino acid absorption and transport system. Of the 48 hereditary amino acid diseases listed by Rosenberg and Scriver, at least half have obvious neurological abnormalities, and the other 20 amino acid diseases cause renal transport defects in amino acids, which can cause secondary neurological damage. When the nervous system is affected, usually only mild mental retardation occurs, and there are no obvious symptoms until 2 to 3 years after onset. Like other hereditary metabolic diseases, amino acid disease does not affect fetal uterine growth, development, or childbirth, and may be early without signs. Except for some cases, aminoacidopathy is recessive inheritance of autosome. Phenylketonuria (PKU), tyrosineemia and Hartnup disease are three clinically important early childhood amino acid diseases, which are typical diseases due to biochemical defects.

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