Document Detail


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
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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.
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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


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