Biotinidase deficiency
ICD-10 Code
D81.810
Biotinidase deficiency
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.
Also known as biotinidase deficiency, BTD deficiency, juvenile-onset multiple carboxylase deficiency, late-onset multiple carboxylase deficiency — per MONDO