Inborn errors and acquired disorders mapped to the pathway and enzyme they affect.
Unrestrained ketogenesis in insulin deficiency
Hyperglycaemia, high anion-gap acidosis, Kussmaul breathing, acetone breath, dehydration
MRP2 canalicular transporter
Conjugated hyperbilirubinaemia; grossly black liver
Fructokinase
Benign; asymptomatic
L-Xylulose reductase
Benign; incidental urinary reducing substance
alpha-Galactosidase A
Angiokeratomas, acroparaesthesia, hypohidrosis, renal failure, cardiomyopathy, stroke
Lipoprotein lipase or apoC-II
Eruptive xanthomas, lipaemia retinalis, recurrent pancreatitis; creamy supernatant
LDL receptor (or apoB-100, PCSK9 gain-of-function)
Tendon xanthomas, xanthelasma, corneal arcus, premature coronary disease
Fructose-1,6-bisphosphatase
Fasting hypoglycaemia with lactic acidosis and ketosis, hyperventilation
Glucose-6-phosphate dehydrogenase
Episodic haemolysis with oxidants (primaquine, sulfonamides, nitrofurantoin, dapsone, fava beans, infection); Heinz bodies, bite cells
Galactokinase
Isolated cataracts, no hepatic or CNS disease
Glucocerebrosidase
Hepatosplenomegaly, pancytopenia, bone crises, Gaucher (crumpled-tissue-paper) cells
UGT1A1 (reduced activity)
Mild intermittent jaundice with fasting, illness or stress; otherwise benign
Overproduction or underexcretion of urate
Acute podagra; negatively birefringent needle-shaped crystals; tophi
Aldolase B
Vomiting, hypoglycaemia, jaundice, cirrhosis after fructose/sucrose; aversion to sweets
UMP synthase (OPRT + OMP decarboxylase)
Megaloblastic anaemia NOT responsive to B12 or folate, failure to thrive; NO hyperammonaemia (unlike OTC deficiency)