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
Related Documents :
9149397 - Comparative biochemistry of a cytosolic artiodactyl glycosidase.
7763947 - Geranyl 6-o-beta-d-xylopyranosyl-beta-d-glucopyranoside isolated as an aroma precursor ...
19256537 - New triterpenic saponins from the aerial parts of medicago arabica (l.) huds.
2930767 - Identification of 3 alpha, 7 alpha, 12 alpha-trihydroxy-5 beta-cholest-24-enoic acid as...
17413857 - The influence of moderate and high dietary long chain polyunsaturated fatty acids (lcpu...
22454287 - Prolonged infusion of amino acids increases leucine oxidation in fetal sheep.
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.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
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

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Ecto-5'-nucleotidase (CD73)-mediated extracellular adenosine production plays a critical role in hep...
Next Document:  Metabolism of 4-pyridone-3-carboxamide-1-beta-D-ribonucleoside triphosphate and its nucleoside precu...