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

Abstract

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 the range of patients with propionyl-CoA carboxylase deficiency. Documented deficiency in this patient of two carboxylase, both of which contain biotin, suggests that the primary defect is in the metabolism of biotin.

• Authors: L Sweetman, S P Bates, D Hull, W L Nyhan
• Journal: Pediatric research (Pediatr Res) Vol. 11 Issue 11 Pg. 1144-7 (Nov 1977) ISSN: 0031-3998 [Print] United States
• PMID: 917614 (Publication Type: Journal Article)

Chemical References

• Citrates
• Crotonates
• Propionates
• Biotin
• Creatinine
• Carboxy-Lyases
• Leucine
• Glycine

Topics

• Biotin (metabolism, therapeutic use)
• Carboxy-Lyases (deficiency)
• Citrates (urine)
• Creatinine (urine)
• Crotonates (urine)
• Fibroblasts (enzymology)
• Glycine (urine)
• Humans
• Infant
• Leucine (metabolism)
• Male
• Propionates (urine)
• Renal Aminoacidurias (enzymology, urine)