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BCKDHA

—Branched Chain Keto Acid Dehydrogenase E1 Subunit Alpha

Chromosome: 19

Location: 19:41397792-41425092

OMIM: 608348

Ensembl: ENSG00000248098

Official·OMIM:608348 Official·ENSG00000248098

Encodes branched-chain amino acid dehydrogenase subunit. Mutations cause maple syrup urine disease.

Treatment Roadmap — BCKDHA

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

Maple Syrup Urine Disease

Autosomal RecessivePrevalence: 1/185000metabolic

Official·OMIM:248600 Official·ORPHA268145

Summary

Clinical Trial

Approved Therapy

Registered Variant