Krankheit

Hyperphenylalaninämie, BH4-deficient A

Hyperphenylalaninemia, BH4-deficient A

OMIM: 261640

Synonyme

  • 6-Pyruvoyl-Tetrahydropterin Synthase Mangel
  • 6-pyruvoyl-tetrahydropterin synthase deficiency

Gen locations