Biotinidase deficiency
MONDO:0009665A 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.
Also known as: BTD deficiency, biotinidase deficiency, juvenile-onset multiple carboxylase deficiency, late-onset multiple carboxylase deficiency, biotin deficiency, late-onset biotin-responsive multiple carboxylase deficiency, multiple carboxylase deficiency, juvenile-onset, multiple carboxylase deficiency, late-onset
10 clinical trials for this condition and its sub-types, 3 tagged with Biotinidase deficiency itself.
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