Purine nucleoside fosforylase deficiëntie

PCH6

PCH2 (Pontocerebellaire Hypoplasie)

MNGIE (myo-neuro-gastro-instestinale encephalopathy)

Primaire hyperoxaluria

Osteogenesis imperfecta

Pelizaeus-Merzbacher disease

Erythropoietic protoporphyria

Molybdenum cofactor deficiency, sulfite oxidase deficiency

Pyridoxamine 5-phosphate oxidase deficiency (pyridoxal-P responsive seizures)