Deficit di 6-piruvoil-tetraidropterina-sintasi
ORPHA:13· ICD-10 E70.1· 6-pyruvoyl-tetrahydropterin synthase deficiency
- Prevalenza
- Unknown
- Trasmissione
- Autosomal recessive
- Età di esordio
- Infancy, Neonatal
ORPHA:13· ICD-10 E70.1· 6-pyruvoyl-tetrahydropterin synthase deficiency