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
Europe PMC · fetched just now · sorted by publication date
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1
"Not flying solo": phylogenetic identification and life-cycle insights of larval cestodes in the European flying squid <i>Todarodes sagittatus</i> (Cephalopoda: Ommastrephidae).
Benyahia N, Bouguerche C, Kechemir-Issad N. · 2026-08-10
open access unreviewed -
2
Mitochondrial targeting strategies for mitigating oxidative damage and enhancing neuroprotection in ischemic stroke: A Review.
Trujillo-Rangel WÁ, Escutia-Gutiérrez R, García-Benavides L, Zamudio-Ojeda A, Delgado-Lara DLC, García-Mercad… · 2026-07-25
open access unreviewed -
3
Early diagnosis of a case of Heidenhain variant of Creutzfeld-Jakob disease by cerebrospinal fluid real-time quaking-induced conversion test.
Li L, Yan R, Wang J, Guo Y. · 2026-03-27
open access unreviewed -
4
Disease-mutations perturb proton transfer reactions in respiratory complex I.
Saura P, Badolato S, Gangdal A, Beghiah A, Kaila VRI. · 2026-08-17
unreviewed -
5
Inborn Errors of Metabolism: Pathophysiological Insights, Diagnostic Advances, and Evolving Treatment Paradigms.
Sadaria R. · 2026-06-19
open access unreviewed -
6
Data-driven burst shape analysis for functional phenotyping of neuronal cultures.
Schäfer TJ, Giannakakis E, Schmidt-Barbo P, Levina A, Vinogradov O. · 2026-09-21
open access unreviewed -
7
Current translational perspectives for diagnosis and individualized therapy in rare genetic diseases.
Niazi SK. · 2026-10-02
open access unreviewed -
8
Assessing the Use of Oxford Nanopore Technologies Sequencing for Detection of Stable Wolbachia Bacterial Strain in Symbiosis in Wild Anopheles Mosquitoes From the WHO African Region.
Chatterley L, Hull N, Hughes I, Sougoufara S, Meek O, Ceyran M, Dhokiya V, Bandibabone J, Adala C, Cunningham… · 2026-10-01
open access unreviewed -
9
A case of severe enteritis following CapeOX therapy in a postoperative rectal cancer patient with m.3243A>G-associated mitochondrial disease.
Kawakubo H, Ryu S, Imaizumi Y, Suzuki D, Nakashima S, Goto K, Kamada T, Okamoto A, Kobayashi Y, Takano Y, Tak… · 2026-08-25
unreviewed -
10
Type B Lactic Acidosis: Diagnosis, Etiology and Treatment - An Educational Review.
Cardenas Fimbres JA, Cardenas Fimbres JM, Stewart C, Tobias JD. · 2026-08-31
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.