5.1.a

Disorders of tetrahydrobiopterin metabolism

  • Autosomal recessive GTP cyclohydrolase 1 deficiency
  • Autosomal dominant GTP cyclohydrolase 1 deficiency
  • 6-pyruvoyl-tetrahydropterin synthase deficiency
  • Sepiapterin reductase deficiency
  • Dihydropteridine reductase deficiency
  • Pterin-4-alpha-carbinolamine dehydratase deficiency (Primapterinuria; maturity-onset diabetes of the young (MODY) with hypomagnesemia and renal magnesium loss)

Subnetworks

Immagini SNW 344 x 258 px 1

NOMS

Disorders of neuromodulators and other small molecules

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