x

Search for a rare disease

* (*) mandatory field

Suggest an update

(*) Required fields.

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Multiple carboxylase deficiency

Disease definition

Multiple carboxylase deficiency (MCD) is a term used to describe 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.

ORPHA:148

  • 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

Additional information

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.