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

Bartlett, K; Ng, H; Leonard, JV; (1980) A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria. Clin Chim Acta , 100 (2) pp. 183-186.

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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.

Type: Article
Title: A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria.
Location: Netherlands
Keywords: Acidosis, Acyl Coenzyme A, Amino Acid Metabolism, Inborn Errors, Biotin, Butyrates, Carbon Dioxide, Carboxy-Lyases, Child, Preschool, Crotonates, Female, Fibroblasts, Glycine, Humans, Hydroxy Acids, Ligases, Mitochondria, Propionates, Pyruvate Carboxylase Deficiency Disease, Valerates
UCL classification: UCL > School of Life and Medical Sciences
UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Child Health
URI: http://discovery.ucl.ac.uk/id/eprint/1371416
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