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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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

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.[1]

References

  1. A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduria. Bartlett, K., Ng, H., Leonard, J.V. Clin. Chim. Acta (1980) [Pubmed]
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