Carnitine / acylcarnitine translocase deficiëntie

Adenosine monophosphate deaminase 1 deficiency

Alexander disease (GFAP)

Congenital erythropoietic porphyria

Acute intermittent porphyria

5-aminolevulinic acid dehydratase porphyria

5-aminolevulinic acid synthase deficiency

Congenital disorders of N- andor O-glycosylation

Acetylaspartic aciduria (Canavan‘s disease)

Dopamine beta-hydroxylase deficiency