Skip navigation

Disease Biotinidase Deficiency

Name Biotinidase Deficiency
Synonyms Biotinidase Deficiencies | BTD Deficiencies | BTD Deficiency | Carboxylase Deficiency, Multiple, Late-Onset | Deficiencies, Biotinidase | Deficiencies, BTD | Deficiency, Biotinidase | Deficiency, BTD | Deficiency, Multiple Carboxylase, Late-Onset | Late Onset Biotin Responsive Multiple Carboxylase Deficiency | Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency | Late Onset Multiple Carboxylase Deficiency | Late-Onset Multiple Carboxylase Deficiency | MULTIPLE CARBOXYLASE DEFICIENCY, JUVENILE-ONSET | Multiple Carboxylase Deficiency, Late Onset | Multiple Carboxylase Deficiency, Late-Onset
Definition The late onset form of MULTIPLE CARBOXYLASE DEFICIENCY (deficiency of the activities of biotin-dependent enzymes propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to a defect or deficiency in biotinidase which is essential for recycling BIOTIN.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D028921
OMIM® ID 253260
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Multiple Carboxylase Deficiency Has associated chemicals Has associated genes Biotinidase Deficiency Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Multiple Carboxylase Deficiency Has associated chemicals Has associated genes Biotinidase Deficiency Has associated chemicals Has associated genes
3. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Multiple Carboxylase Deficiency Has associated chemicals Has associated genes Biotinidase Deficiency Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Multiple Carboxylase Deficiency Has associated chemicals Has associated genes Biotinidase Deficiency Has associated chemicals Has associated genes

Top ↑ Descendants

Biotinidase Deficiency Has associated chemicals Has associated genes
  Biotin deficiency