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

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. SIMILAR CONTENT BEING VIEWED BY OTHERS

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2023 ARTICLE PDF AUTHOR INFORMATION AUTHORS AND AFFILIATIONS * Department of Pediatrics, University of California, San Diego, La Jolla, California, USA Lawrence Sweetman, Seth P Bates, David

Hull & William L Nyhan * Department of Child Health, The University of Nottingham, Nottingham, England Lawrence Sweetman, Seth P Bates, David Hull & William L Nyhan Authors *

Lawrence Sweetman View author publications You can also search for this author inPubMed Google Scholar * Seth P Bates View author publications You can also search for this author inPubMed 

Google Scholar * David Hull View author publications You can also search for this author inPubMed Google Scholar * William L Nyhan View author publications You can also search for this

author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Sweetman, L., Bates, S., Hull, D. _et al._ Propionyl-CoA Carboxylase

Deficiency in a Patient with Biotin-responsive 3-Methylcrotonylglycinuria. _Pediatr Res_ 11, 1144–1147 (1977). https://doi.org/10.1203/00006450-197711000-00006 Download citation * Issue

Date: 01 November 1977 * DOI: https://doi.org/10.1203/00006450-197711000-00006 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable

link Sorry, a shareable link is not currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative KEYWORDS * Biotin *

methylcitric acid * 3-methylcrotonylglycinuria * propionyl-CoA carboxylase