Inborn errors and acquired disorders mapped to the pathway and enzyme they affect.
Complex IV (cytochrome c oxidase) inhibition
Headache, coma, lactic acidosis; cherry-red skin in CO; bitter-almond odour in cyanide
Unrestrained ketogenesis in insulin deficiency
Hyperglycaemia, high anion-gap acidosis, Kussmaul breathing, acetone breath, dehydration
ALA dehydratase and ferrochelatase
Microcytic anaemia with basophilic stippling, abdominal colic, wrist/foot drop, encephalopathy, gingival lead lines
PDH, alpha-KG dehydrogenase, transketolase
Confusion, ophthalmoplegia, ataxia; then confabulation and amnesia
Showing all 4 disorders.