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Disease Multiple Carboxylase Deficiency

Name Multiple Carboxylase Deficiency
Synonyms Carboxylase Deficiencies, Combined | Carboxylase Deficiencies, Multiple | Carboxylase Deficiency, Combined | Carboxylase Deficiency, Multiple | Combined Carboxylase Deficiencies | Combined Carboxylase Deficiency | Deficiencies, Combined Carboxylase | Deficiencies, Multiple Carboxylase | Deficiency, Combined Carboxylase | Deficiency, Multiple Carboxylase | Multiple Carboxylase Deficiencies
Definition A deficiency in the activities of biotin-dependent enzymes (propionyl-CoA carboxylase, methylcrotonyl-CoA carboxylase, and PYRUVATE CARBOXYLASE) due to one of two defects in BIOTIN metabolism. The neonatal form is due to HOLOCARBOXYLASE SYNTHETASE DEFICIENCY. The late-onset form is due to BIOTINIDASE DEFICIENCY.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D009100
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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
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
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
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

Top ↑ Descendants

Multiple Carboxylase Deficiency Has associated chemicals Has associated genes
View node Biotinidase Deficiency Has associated chemicals Has associated genes
  Holocarboxylase Synthetase Deficiency Has associated chemicals Has associated genes
  Multiple Carboxylase Deficiency, Juvenile-Onset