DISEASES

Disease-gene associations mined from literature

Human genes for biotinidase deficiency

Biotinidase deficiency [DOID:856]

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.

Synonyms:  biotinidase deficiency,  biotinidase deficiencies,  DOID:856,  BTD deficiency,  deficiency of biotinidase ...

Linkouts:  OMIM