Document Detail

Aminoacidopathies: a review of 3 years experience of investigations in a Kuwait hospital.
MedLine Citation:
PMID:  3148069     Owner:  NLM     Status:  MEDLINE    
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.
G C Yadav; P C Reavey
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of inherited metabolic disease     Volume:  11     ISSN:  0141-8955     ISO Abbreviation:  J. Inherit. Metab. Dis.     Publication Date:  1988  
Date Detail:
Created Date:  1989-04-12     Completed Date:  1989-04-12     Revised Date:  2007-03-21    
Medline Journal Info:
Nlm Unique ID:  7910918     Medline TA:  J Inherit Metab Dis     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  277-84     Citation Subset:  IM    
Department of Clinical Biochemistry, Al-Sabah Hospital, Kuwait.
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MeSH Terms
Amino Acid Metabolism, Inborn Errors / metabolism*
Amino Acids / analysis
Child, Preschool
Citrulline / blood
Cystinuria / metabolism
Glycine / blood
Homocystinuria / metabolism
Infant, Newborn
Maple Syrup Urine Disease / metabolism
Phenylalanine / blood
Phenylketonurias / metabolism
Proline / blood
Tyrosine / blood
Reg. No./Substance:
0/Amino Acids; 147-85-3/Proline; 372-75-8/Citrulline; 55520-40-6/Tyrosine; 56-40-6/Glycine; 63-91-2/Phenylalanine

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