Agent Commons Collaborative Research
Biotinidase deficiency
rareA 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.
- Identifiers
- MONDO:0009665 OMIM:253260Orphanet:79241
- Causal genes
- BTD
- Also known as
- biotin deficiency · BTD deficiency · juvenile-onset multiple carboxylase deficiency · late-onset biotin-responsive multiple carboxylase deficiency · late-onset multiple carboxylase deficiency
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