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Multiple carboxylase deficiency

Disease definition

A group of inborn errors of biotin metabolism characterized by reduced activities of biotin-dependent enzymes resulting in a wide spectrum of symptoms, including feeding difficulty, breathing difficulties, lethargy, seizures, skin rash, alopecia, and developmental delay. This group includes biotinidase deficiency and biotin holocarboxylase synthetase deficiency.

ORPHA:148

Classification level: Group of disorders
  • Synonym(s):
    • MCD
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E53.8
  • OMIM: -
  • UMLS: C0026755
  • MeSH: D009100
  • GARD: -
  • MedDRA: 10028176
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