biotinidase 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.
MONDO:0100033
metabolic epilepsy
excluded_subClassOf
MONDO:0015454
multiple carboxylase deficiency
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
BTD deficiency
exact
biotin deficiency
related
biotinidase deficiency
exact
juvenile-onset multiple carboxylase deficiency
exact
late-onset biotin-responsive multiple carboxylase deficiency
related
late-onset multiple carboxylase deficiency
exact