/biotinidase deficiency

biotinidase deficiency

Rare Disease

MONDO:0009665

Also Known As

BTD deficiencybiotinidase deficiencydeficiency of biotinidasejuvenile-onset multiple carboxylase deficiencylate-onset multiple carboxylase deficiencybiotin deficiencylate-onset biotin-responsive multiple carboxylase deficiencymultiple carboxylase deficiency, juvenile-onsetmultiple carboxylase deficiency, late-onset

Definition

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.