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.
Mots-clés Pascal : Métabolisme pathologie, Maladie héréditaire, Enfant, Homme, Chine, Asie, Analyse biochimique, Epidémiologie, Hong Kong
Mots-clés Pascal anglais : Metabolic diseases, Genetic disease, Child, Human, China, Asia, Biochemical analysis, Epidemiology, Hong Kong
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 98-0010894
Code Inist : 002B22D05. Création : 17/04/1998.