Biotinidase deficiency

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Biotinidase deficiency

Synonyms: Juvenile-onset multiple carboxylase deficiency | Late-onset multiple carboxylase deficiency

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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Biotinidase deficiency?

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Advocacy Organizations

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

For a list of clinical trials in this disease area, please click here.