| Biochemical investigation of young hospitalized Chinese children: results over a 7-year period. | |
| | |
MedLine Citation:
|
PMID: 9375724 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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:
|
C P Pang; L K Law; Y T Mak; C C Shek; K L Cheung; T W Mak; C W Lam; A Y Chan; T F Fok |
Related Documents
:
|
3081034 - Coenzyme a-mediated transacylation of sn-2 fatty acids from phosphatidylcholine in rat ... 20816094 - Acyl-coa dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation co... 18344344 - Application of functional genomics to pathway optimization for increased isoprenoid pro... 3778684 - Mitochondrial acetoacetyl-coa thiolase deficiency. 8071864 - Altered dopamine and serotonin metabolism in the dopamine-denervated and serotonin-hype... 8428724 - Hyaluronic acid uptake by the isolated, perfused rat liver: an index of hepatic sinusoi... |
Publication Detail:
|
Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: American journal of medical genetics Volume: 72 ISSN: 0148-7299 ISO Abbreviation: Am. J. Med. Genet. Publication Date: 1997 Nov |
Date Detail:
|
Created Date: 1997-12-18 Completed Date: 1997-12-18 Revised Date: 2006-11-15 |
Medline Journal Info:
|
Nlm Unique ID: 7708900 Medline TA: Am J Med Genet Country: UNITED STATES |
Other Details:
|
Languages: eng Pagination: 417-21 Citation Subset: IM |
Affiliation:
|
Department of Chemical Pathology, Chinese University of Hong Kong, Shatin, N.T. |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Child, Preschool Female Hong Kong Humans Inpatients Male Metabolism, Inborn Errors / diagnosis, metabolism* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: X-linked ichthyosis in Mexico: high frequency of deletions in the steroid sulfatase encoding gene.
Next Document: Maternal interview reports of family history of birth defects: evaluation from a population-based ca...