Abstract
Two mitochondrial biotin-dependent enzymes, propionyl-CoA carboxylase and pyruvate carboxylase, are measurable in hair roots. A third biotin-dependent enzyme, β-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.
Original language | English (US) |
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Pages (from-to) | 25-30 |
Number of pages | 6 |
Journal | Clinica Chimica Acta |
Volume | 130 |
Issue number | 1 |
DOIs | |
State | Published - May 9 1983 |
Funding
This study was supported by NIH Grant AM 25675 and National Foundation-March of Dimes 6-342. BW is a recipient of an NIH Research Career Development Award AM 00677.
ASJC Scopus subject areas
- Biochemistry, medical
- Biochemistry
- Clinical Biochemistry