The information on this page is for informational purposes only and does not constitute medical advice. Consult your genetic counselor or specialist physician for treatment decisions.

BTD

—Biotinidase

Chromosome: 3

Location: 3:15601341-15722522

OMIM: 609019

Ensembl: ENSG00000169814

Official·OMIM:609019 Official·ENSG00000169814

Encodes biotinidase enzyme. Mutations cause biotinidase deficiency.

Treatment Roadmap — BTD

Preclinical

Phase 1

Phase 2

Phase 3

Approved

Clinical trials have approximately 10% success rate. This roadmap shows the current status, not guaranteed outcomes.

Associated Diseases

Biotinidase Deficiency

Autosomal RecessivePrevalence: 1/60000metabolic

Official·OMIM:253260 Official·ORPHA79241

Summary

Clinical Trial

Approved Therapy

Registered Variant