Document Detail

Beta-alanine and beta-aminoisobutyric acid levels in two siblings with dihydropyrimidinase deficiency.
MedLine Citation:
PMID:  18600547     Owner:  NLM     Status:  MEDLINE    
Dihydropyrimidinase (DHP) deficiency is an inborn error of the pyrimidine degradation pathway, affecting the hydrolytic ring opening of the dihydropyrimidines. In two siblings with a complete DHP deficiency and a variable clinical presentation, a normal concentration of beta-alanine and strongly decreased levels of beta-aminoisobutyric acid were observed in plasma, urine and CSF. No major differences were observed for the concentrations of the beta-amino acids in plasma and urine between the symptomatic and asymptomatic sibling. Thus, the relevance of the shortage of beta-aminoisobutyric acid for the onset of a clinical phenotype in patients with DHP deficiency remains to be established.
A B P van Kuilenburg; A E M Stroomer; A M Bosch; M Duran
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Nucleosides, nucleotides & nucleic acids     Volume:  27     ISSN:  1532-2335     ISO Abbreviation:  Nucleosides Nucleotides Nucleic Acids     Publication Date:  2008 Jun 
Date Detail:
Created Date:  2008-07-07     Completed Date:  2008-10-30     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100892832     Medline TA:  Nucleosides Nucleotides Nucleic Acids     Country:  United States    
Other Details:
Languages:  eng     Pagination:  825-9     Citation Subset:  IM    
Academic Medical Center, Department of Clinical Chemistry, University of Amsterdam, Amsterdam, The Netherlands.
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MeSH Terms
Amidohydrolases / deficiency*,  genetics,  metabolism
Aminoisobutyric Acids / blood,  cerebrospinal fluid,  metabolism*,  urine
beta-Alanine / blood,  cerebrospinal fluid,  metabolism*,  urine
Reg. No./Substance:
0/Aminoisobutyric Acids; 107-95-9/beta-Alanine; EC 3.5.-/Amidohydrolases; EC

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