Metabolic disorders

alpha-Galactosidase A

Angiokeratomas, acroparaesthesia, hypohidrosis, renal failure, cardiomyopathy, stroke

Glucose-6-phosphate dehydrogenase

Episodic haemolysis with oxidants (primaquine, sulfonamides, nitrofurantoin, dapsone, fava beans, infection); Heinz bodies, bite cells

Hypoxanthine-guanine phosphoribosyltransferase

Hyperuricaemia, gout, orange sand in nappies, self-mutilation, choreoathetosis, intellectual disability

ALD protein (peroxisomal transporter)

Adrenal insufficiency with progressive demyelination and behavioural change

ALA synthase 2

Microcytic anaemia with ringed sideroblasts and iron overload