Multiple carboxylase deficiency due to biotinidase deficiency (Q86004)

Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterised by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.

Language	Label	Description	Also known as
default for all languages	ID_1336432647
English	Multiple carboxylase deficiency due to biotinidase deficiency	Biotinidase deficiency is a late-onset form of multiple carboxylase deficiency (see this term), an inborn error of biotin metabolism that, if untreated, is characterised by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.