GTP cyclohydrolase I deficiency in California
1 specialist · 5 treatment centers for GTP cyclohydrolase I deficiency in California, verified against ClinicalTrials.gov, PubMed, and the NPPES NPI registry.
GTP cyclohydrolase I (GTPCH I) deficiency is a rare inherited disorder of biopterin metabolism caused by mutations in the GCH1 gene, which encodes the enzyme GTP cyclohydrolase I — the first and rate-limiting enzyme in the biosynthesis of tetrahydrobiopterin (BH4). BH4 is an essential cofactor for phenylalanine hydroxy…
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Specialists are identified from ClinicalTrials.gov principal investigators, PubMed publications, and the NPI registry, then ranked through an automated scoring pipeline.
Report missing dataSpecialists in California
Treatment centers in California
- Stanford MedicineStanford, CA
- Stanford MedicineStanford, CA
- UCLA Rare Disease Day Program ↗NORD CoEUCLA HealthLos Angeles, CA
- UCLA UDN Clinical Site ↗NIH UDNUCLA HealthLos Angeles, CA
- UCSF Benioff Children's HospitalSan Francisco, CA