title: Biotin-responsive multiple carboxylase deficiency in an 8-year-old boy with normal serum biotinidase and fibroblast holocarboxylase-synthetase activities.
abstract: An 8-year-old boy with late onset multiple carboxylase deficiency is described. Biotinidase deficiency and holocarboxylase-synthetase deficiency have been excluded. A very slow biochemical response to biotin was found. The decrease in urinary organic acid excretion followed first-order kinetics with a half-life of about 50 days. The initially low carboxylase activities in thrombocytes were increased but not normalized after 3 months of treatment.
authors.affiliation: Department of Clinical Chemistry, Gothenburg University, Sahlgren's Hospital, Sweden.
authors.forename: E
authors.initials: E
authors.lastname: Holme
authors.forename: C E
authors.initials: CE
authors.lastname: Jacobson
authors.forename: B
authors.initials: B
authors.lastname: Kristiansson
mesh_terms: D000581:Amidohydrolases / Q000097:blood*; D001710:Biotin / Q000378:metabolism*; D043523:Biotinidase; D019731:Carbon-Nitrogen Ligases; D002648:Child; D005347:Fibroblasts / Q000201:enzymology; D005998:Glycine / Q000031:analogs & derivatives / Q000652:urine; D006801:Humans; D007700:Kinetics; D008025:Ligases / Q000378:metabolism*; D008297:Male; D009100:Multiple Carboxylase Deficiency / Q000378:metabolism*; D014631:Valerates / Q000652:urine
chemical_list: D014631:Valerates; C002163:beta-methylcrotonylglycine; C004961:beta-hydroxyisovaleric acid; D001710:Biotin; D000581:Amidohydrolases; D043523:Biotinidase; D008025:Ligases; D019731:Carbon-Nitrogen Ligases; C023312:holocarboxylase synthetases; D005998:Glycine