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.

PAH

—Phenylalanine Hydroxylase

Chromosome: 12

Location: 12:102836889-102958410

OMIM: 612349

Ensembl: ENSG00000171759

Official·OMIM:612349 Official·ENSG00000171759

Encodes the enzyme converting phenylalanine to tyrosine. Mutations cause phenylketonuria.

Treatment Roadmap — PAH

Preclinical

Phase 1

29 trial

Phase 2

70 trial

Phase 3

42 trial

Approved

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

Associated Diseases

Phenylketonuria

Autosomal RecessivePrevalence: ~50Kmetabolic

Official·OMIM:261600 Official·ORPHA716

Summary

231

Clinical Trial

Approved Therapy

Registered Variant