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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
MELAS Mitochondrial

Mitochondrial tRNA-Leu(UUR) mutation (commonly m.3243A>G); impairs synthesis of mtDNA-encoded respiratory subunits, Complex I most severely

MT-TL1 Electron Transport Chain (Com…

Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes; ragged red fibres

Showing all 1 disorders.