biotinidase deficiency

Term ID

DOID:856

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. (2)

References

• GARD:894
• ICD10CM:D81.810
• MESH:D028921
• MIM:253260
• NCI:C84598
• SNOMEDCT_US_2023_03_01:8808004
• UMLS_CUI:C0220754

Ontology

Human Disease   ( DOID:856 )