Alpha-mannosidosis

Dihydropyrimidinuria

Gangliosidosis, types GM1 and GM2 (variants 0 and AB)

Glycogen Storage Disease, type IV (GSD IV)

Hyperlipoproteinaemia

Mucolipidosis, type II

Mucopolysaccharidosis, types I, VI and VII

Neuronal Ceroid Lipofuscinosis (NCL)

Niemann-Pick Disease, types C1, C2, A

Porphyria, congenital erythropoietic (CEP) or acute intermittent (AIP)

Pyruvate Kinase (PK) Deficiency

Wilson's Disease