HETEROGENEITY OF HOLOCARBOXYLASE SYNTHETASE IN PATIENTS WITH BIOTIN-RESPONSIVE MULTIPLE CARBOXYLASE DEFICIENCY
- 1 January 1985
- journal article
- research article
- Vol. 37 (2) , 326-337
Abstract
Holocarboxylase synthetase activity was determined in fibroblasts of 7 patients with the neonatal form of biotin-responsive multiple carboxylase deficiency. The normal Km for biotin was 15 .+-. 3 nmol/l, while in the patients the values ranged from 48-1062 nmol/l. The mean maximum velocity was 27% of normal. Differences among the values obtained for the Km for biotin and the heat stability of holocarboxylase synthetase suggested that the patients studied represented at least 4 distinct variants at the holocarboxylase synthetase locus.This publication has 29 references indexed in Scilit:
- Biotin-Responsive Carboxylase Deficiency Associated with Subnormal Plasma and Urinary BiotinNew England Journal of Medicine, 1981
- Holocarboxylase synthetase deficiency: A biotin-responsive organic acidemiaThe Journal of Pediatrics, 1980
- A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduriaClinica Chimica Acta; International Journal of Clinical Chemistry, 1980
- Biotin-response OrganicaciduriaJournal of Clinical Investigation, 1979
- MULTIPLE BIOTIN-DEPENDENT CARBOXYLASE DEFICIENCIES ASSOCIATED WITH DEFECTS IN T-CELL AND B-CELL IMMUNITYThe Lancet, 1979
- Propionyl-CoA Carboxylase Deficiency in a Patient with Biotin-responsive 3-MethylcrotonylglycinuriaPediatric Research, 1977
- Deficiency of propionyl-CoA carboxylase and methylcrotonyl-CoA carboxylase in a patient with methylcrotonylglycinuriaClinica Chimica Acta; International Journal of Clinical Chemistry, 1977
- COMBINED CARBOXYLASE DEFECT: BIOTIN-RESPONSIVENESS IN CULTURED FIBROBLASTSThe Lancet, 1976
- Beta-methylcrotonic aciduria associated with lactic acidosisThe Journal of Pediatrics, 1976
- BIOTIN-RESPONSIVE β-METHYLCROTONYLGLYCINURIAThe Lancet, 1971