Enzyme or protein defect
Mitochondrial tRNA-Leu(UUR) mutation (commonly m.3243A>G); impairs synthesis of mtDNA-encoded respiratory subunits, Complex I most severely
Accumulates or becomes deficient
Lactate
Key features
Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes; ragged red fibres
Management
Supportive; arginine in acute episodes
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
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