Propionyl-CoA carboxylase deficiency in a patient with biotin-responsive 3-methylcrotonylglycinuria

Lawrence Sweetman, Seth P. Bates, David Hull, William L. Nyhan

Research output: Contribution to journalArticlepeer-review

44 Scopus citations


The abnormal metabolites 3-hydroxy propionic 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.

Original languageEnglish (US)
Pages (from-to)1144-1147
Number of pages4
JournalPediatric Research
Issue number11
StatePublished - Nov 1977
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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