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Metabolic disorders

Inborn errors and acquired disorders mapped to the pathway and enzyme they affect.

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Inheritance All AR 43 XR 5 Acquired 4 XLD 2 AD 2 AD / acquired 1 AR / polymorphism 1 Multifactorial 1 Mitochondrial 1 Mitochondrial / AR 1
OTC deficiency XLD

Ornithine transcarbamylase

OTC Urea Cycle

Commonest urea cycle defect; hyperammonaemia, vomiting, encephalopathy; low BUN, no megaloblastic anaemia

Showing all 2 disorders.