Term Name: biotinidase deficiency
Synonyms: BTD deficiency, deficiency of biotinidase, Juvenile-onset multiple carboxylase deficiency, Late-onset multiple carboxylase deficiency
Definition: A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25.
Ontology: Human Disease [DOID:856]   ( DOID:856 )

Relationships
is a type of: autosomal recessive disease multiple carboxylase deficiency