The measurement of propionyl-CoA carboxylase and pyruvate carboxylase activity in hair roots: its use in the diagnosis of inherited biotin-dependent enzyme deficiencies.
Two mitochondrial biotin-dependent enzymes, propionyl-CoA carboxylase and pyruvate carboxylase, are measurable in hair roots. A third biotin-dependent enzyme, beta-methylcrotonyl-CoA carboxylase, was barely detectable in hair roots. The diagnosis of isolated propionyl-CoA carboxylase deficiency was confirmed in hair roots of a known affected patient. This method should be a rapid and accurate method for the diagnoses of the various carboxylase deficiencies, particularly isolated pyruvate carboxylase deficiency in individuals with lactic acidosis, as well as for the assessment of biotin responsiveness in these patients.
D000138:Acidosis / Q000378:metabolism; D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000188:drug therapy; D001710:Biotin / Q000627:therapeutic use; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis*; D002262:Carboxy-Lyases / Q000032:analysis* / Q000172:deficiency; D006197:Hair / Q000201:enzymology*; D006801:Humans; D007223:Infant; D007773:Lactates / Q000378:metabolism; D043586:Methylmalonyl-CoA Decarboxylase; D011422:Propionates / Q000378:metabolism; D011766:Pyruvate Carboxylase / Q000032:analysis*; D011773:Pyruvates / Q000378:metabolism
D007773:Lactates; D011422:Propionates; D011773:Pyruvates; D001710:Biotin; D002262:Carboxy-Lyases; D011766:Pyruvate Carboxylase; D043586:Methylmalonyl-CoA Decarboxylase