Orphanet: Biotinidase deficiency

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Biotinidase deficiency

Disease definition

A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.


Classification level: Disorder
  • Synonym(s):
    • Juvenile-onset multiple carboxylase deficiency
    • Late-onset multiple carboxylase deficiency
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal, Childhood, Adolescent, Adult
  • ICD-10: E53.8
  • OMIM: 253260
  • UMLS: C0220754  C1854698
  • MeSH: D028921
  • GARD: 894
  • MedDRA: 10071434
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