Multiple Carboxylase Deficiency

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.

Also Known As:

Deficiency, Multiple Carboxylase; Carboxylase Deficiency, Combined; Deficiency, Combined Carboxylase; Carboxylase Deficiencies, Combined; Carboxylase Deficiencies, Multiple; Combined Carboxylase Deficiencies; Deficiencies, Combined Carboxylase; Deficiencies, Multiple Carboxylase; Multiple Carboxylase Deficiencies; Carboxylase Deficiency, Multiple; Combined Carboxylase Deficiency

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Amino Acid Metabolism: 1
      - Multiple Carboxylase Deficiency: 117
    - Inborn Errors Carbohydrate Metabolism
      - Multiple Carboxylase Deficiency: 117
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Amino Acid Metabolism: 1
      - Multiple Carboxylase Deficiency: 117
    - Inborn Errors Carbohydrate Metabolism
      - Multiple Carboxylase Deficiency: 117

D Costopoulou Selected Research

D Costopoulou Research Topics

Disease

Drug/Important Bio-Agent (IBA)