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A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria.

Abstract
A child with a history of episodes of metabolic acidosis was found to excrete 3-hydroxyisovaleric acid and 3-methylcrotonylglycine. These metabolites disappeared following the administration of biotin. The specific activities of propionyl CoA carboxylase, 3-methylcrotonyl CoA carboxylase and pyruvate carboxylase were found to be low in skin fibroblasts cultured in the absence of added biotin. With the addition of biotin, the specific activity of all three carboxylases returned to normal, that of 3-methylcrotonyl CoA carboxylase ahowing the greatest sensitivity to biotin.
AuthorsK Bartlett, H Ng, J V Leonard
JournalClinica chimica acta; international journal of clinical chemistry (Clin Chim Acta) Vol. 100 Issue 2 Pg. 183-6 (Jan 15 1980) ISSN: 0009-8981 [Print] Netherlands
PMID6766095 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Acyl Coenzyme A
  • Butyrates
  • Crotonates
  • Hydroxy Acids
  • Propionates
  • Valerates
  • Carbon Dioxide
  • beta-methylcrotonylglycine
  • beta-hydroxyisovaleric acid
  • Biotin
  • Carboxy-Lyases
  • Ligases
  • Glycine
Topics
  • Acidosis (urine)
  • Acyl Coenzyme A
  • Amino Acid Metabolism, Inborn Errors (drug therapy, enzymology, urine)
  • Biotin (pharmacology, therapeutic use)
  • Butyrates (urine)
  • Carbon Dioxide
  • Carboxy-Lyases (deficiency)
  • Child, Preschool
  • Crotonates (urine)
  • Female
  • Fibroblasts (enzymology)
  • Glycine (analogs & derivatives, urine)
  • Humans
  • Hydroxy Acids (urine)
  • Ligases (deficiency)
  • Mitochondria (enzymology)
  • Propionates
  • Pyruvate Carboxylase Deficiency Disease
  • Valerates (urine)

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