Aminoacidopathies: A review of 3 years experience of investigations in a Kuwait hospital

Summary We present a summary of the results of quantitative amino acid analysis in 800 subjects over a three‐year period in Al‐Sabah Hospital, Kuwait. Thirty‐five patients with aminoacidopathy were identified, all but two of whom were the offspring of first‐degree consanguineous marriages: nine cases of phenylketonuria, one benign hyperphenylalaninaemia, seven non‐ketotic hyperglycinaemia, five tyrosinaemia, five homocystinuria, four citrullinaemia, two cystinuria, one hyperprolinaemia, and one maple syrup urine disease. The clinical and biochemical findings in these cases are described.