title: Biochemical investigation of young hospitalized Chinese children: results over a 7-year period.
abstract: During the seven years from January 1989 to December 1995, we investigated 2,269 Chinese infants and young children for metabolic disorders in Hong Kong. These young patients, all aged under 4 years and originated from southern China, were ill with no apparent cause and had clinical manifestations suggestive of inherited metabolic diseases. A spot urine and a plasma sample were obtained from each patient for biochemical analysis, including urinary organic acid identification and plasma amino acid analysis. Six cases of mucopolysaccharidosis, four multiple carboxylase deficiency, three 2-methylacetoacetyl CoA thiolase deficiency, two methymalonic aciduria, one glutaric aciduria type I, one glutaric aciduria type II, one a-oxoglutaric aciduria, and one case of orotic aciduria were detected. There were also single suspected cases of medium-chain acyl-CoA dehydrogenase deficiency and isovaleric aciduria. No primary amino acid disorder, such as phenylketouria and maple syrup urine disease, has been detected. Our results suggest that a different pattern of inherited metabolic diseases exists in the southern Chinese when compared with the Chinese in other regions of China.
authors.affiliation: Department of Chemical Pathology, Chinese University of Hong Kong, Shatin, N.T.
authors.forename: C P
authors.initials: CP
authors.lastname: Pang
authors.forename: L K
authors.initials: LK
authors.lastname: Law
authors.forename: Y T
authors.initials: YT
authors.lastname: Mak
authors.forename: C C
authors.initials: CC
authors.lastname: Shek
authors.forename: K L
authors.initials: KL
authors.lastname: Cheung
authors.forename: T W
authors.initials: TW
authors.lastname: Mak
authors.forename: C W
authors.initials: CW
authors.lastname: Lam
authors.forename: A Y
authors.initials: AY
authors.lastname: Chan
authors.forename: T F
authors.initials: TF
authors.lastname: Fok
mesh_terms: D002675:Child, Preschool; D005260:Female; D006723:Hong Kong; D006801:Humans; D007297:Inpatients; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000378:metabolism*