Propionyl-CoA Carboxylase Deficiency in a Patient with Biotin-responsive 3-Methylcrotonylglycinuria
- 1 November 1977
- journal article
- research article
- Published by Springer Nature in Pediatric Research
- Vol. 11 (11), 1144-1147
- https://doi.org/10.1203/00006450-197711000-00006
Abstract
Summary: The abnormal metabolites 3-hydroxypropionic acid (1.6–4.0 mg/day) and methylcitric acid (3.7–5.8 mg/day) were identified and quantitated in the urine of a patient in whom biotin-responsive 3-methylcrotonylglycinuria and deficiency of 3-methylcrotonyl-CoA carboxylase had previously been documented. The level of excretion of these metabolites was in the lower range of those found in patients with propionic acidemia in whom there is a deficiency of propionyl-CoA carboxylase. The activity of this enzyme in fibroblasts derived from the patient and grown in media low in biotin was 4% of normal. This is in the range of patients with propionyl-CoA carboxylase deficiency. Documented deficiency in this patient of two carboxylases, both of which contain biotin, suggests that the primary defect is in the metabolism of biotin. Speculation: The deficiency of two mitochondrial carboxylases in a patient suggests the presence of a fundamental defect in either the transport of biotin or in the holocarboxylase synthetase that attaches biotin covalently to both carboxylases.Keywords
This publication has 1 reference indexed in Scilit:
- Deficiency of propionyl-CoA carboxylase and methylcrotonyl-CoA carboxylase in a patient with methylcrotonylglycinuriaClinica Chimica Acta; International Journal of Clinical Chemistry, 1977