title: Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital.
abstract: 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.
authors.affiliation: Department of Clinical Biochemistry, Al-Sabah Hospital, Kuwait.
authors.forename: G C
authors.initials: GC
authors.lastname: Yadav
authors.forename: P C
authors.initials: PC
authors.lastname: Reavey
mesh_terms: D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000378:metabolism*; D000596:Amino Acids / Q000032:analysis; D002648:Child; D002675:Child, Preschool; D002956:Citrulline / Q000097:blood; D003555:Cystinuria / Q000378:metabolism; D005260:Female; D005998:Glycine / Q000097:blood; D006712:Homocystinuria / Q000378:metabolism; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007730:Kuwait; D008297:Male; D008375:Maple Syrup Urine Disease / Q000378:metabolism; D010649:Phenylalanine / Q000097:blood; D010661:Phenylketonurias / Q000378:metabolism; D011392:Proline / Q000097:blood; D014443:Tyrosine / Q000097:blood
chemical_list: D000596:Amino Acids; D002956:Citrulline; D014443:Tyrosine; D010649:Phenylalanine; D011392:Proline; D005998:Glycine