amino acid disorders

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amino acid disorders A number of extremely rare genetic diseases, occurring in 1–80 per million live births which affect the metabolism of individual amino acids; if untreated many result in mental retardation. Screening for those conditions that can be treated is carried out shortly after birth in most countries. Treatment is generally by feeding specially formulated diets providing minimal amounts of the amino acid involved. See also argininaemia; argininosuccinic aciduria; citrullinaemia, cystinuria; cystathioninuria; Hartnup disease; homocystinuria; hyperammonaemia; maple syrup urine disease; phenylketonuria.