Acid alpha-glucosidase
GAA
Cardiomegaly, hypotonia, early death in infantile form
Metabolic disorders
Inborn errors and acquired disorders mapped to the pathway and enzyme they affect.
Porphyria cutanea tarda
AD / acquired
Uroporphyrinogen decarboxylase
UROD
Commonest porphyria; blistering photosensitivity, hypertrichosis, tea-coloured urine; linked to HCV, alcohol, iron, oestrogen
OCTN2 carnitine transporter
SLC22A5
Cardiomyopathy, hypotonia, hypoketotic hypoglycaemia
Propionyl-CoA carboxylase
PCCA / PCCB
Ketoacidosis, hyperammonaemia, vomiting, hypotonia
Pyruvate carboxylase
Lactic acidosis, hypoglycaemia, neurological disease
PDH E1-alpha
Congenital lactic acidosis, neurological impairment; worsened by high-carbohydrate diet
Pyruvate kinase
Chronic non-spherocytic haemolytic anaemia; right-shifted O2 curve
ABCA1 cholesterol efflux transporter
ABCA1
Near-absent HDL, orange tonsils, hepatosplenomegaly, neuropathy
Phosphofructokinase-1
Exercise intolerance with haemolysis; no second wind
beta-Hexosaminidase A
Cherry-red macula, hyperacusis/startle, progressive neurodegeneration; NO hepatosplenomegaly
Fumarylacetoacetate hydrolase
FAH
Liver failure, renal Fanconi syndrome, hepatocellular carcinoma, cabbage-like odour
Glucose-6-phosphatase
G6PC / SLC37A4 Gluconeogenesis
Severe fasting hypoglycaemia, lactic acidosis, hyperuricaemia, hyperlipidaemia, doll-like facies, hepatomegaly
Wernicke-Korsakoff syndrome
Acquired
PDH, alpha-KG dehydrogenase, transketolase
(acquired B1 deficiency)
Confusion, ophthalmoplegia, ataxia; then confabulation and amnesia
ALD protein (peroxisomal transporter)
ABCD1
Adrenal insufficiency with progressive demyelination and behavioural change
ALA synthase 2
ALAS2
Microcytic anaemia with ringed sideroblasts and iron overload