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PDHA1

—Pyruvate Dehydrogenase E1 Subunit Alpha 1

Chromosome: X

Location: X:19343893-19361718

OMIM: 300502

Ensembl: ENSG00000131828

Official·OMIM:300502 Official·ENSG00000131828

Encodes pyruvate dehydrogenase E1 alpha subunit. Mutations cause pyruvate dehydrogenase deficiency.

Treatment Roadmap — PDHA1

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

Pyruvate Dehydrogenase Deficiency

X-Linked DominantPrevalence: 1/200000mitochondrial

Official·OMIM:312170 Official·ORPHA765

Summary

Clinical Trial

Approved Therapy

Registered Variant