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 April 2024
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Biotinidase deficiency?
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Advocacy Organizations
Charcot-Marie-Tooth Association
To develop drugs to treat or cure CMT and to help improve the quality of life for those living with CMT.
Clinical Trials
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