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MT-TL1 Mitochondrial unreviewed

MELAS

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

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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Europe PMC · from cache · sorted by publication date

  1. 1
    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
  2. 2
    Riboflavin therapy in complex I deficiency: Two new cases of leukoencephalopathy and a systematic literature review.

    Ferrera G, Invernizzi F, Spagnolo M, Lamantea E, Moroni I, Ardissone A. · 2026-07-13

    unreviewed
  3. 3
    Analysis of acute stroke-like lesions in MELAS: Distribution, potential boundaries and spreading pattern.

    Tang H, Liu J, Cai X, Leng F, Hu J, Zhao Y, Wang Z, Yu L. · 2026-06-24

    unreviewed
  4. 4
    Detection of NADH/NAD<sup>+</sup> dysregulation in MELAS via diazo-carboxyl click derivatization mass spectrometry.

    Hu J, Liufu T, Li C, Zhao Q, Yu M, Yuan Y, Quan L, Chen Z, Wang Z. · 2026-06-13

    unreviewed
  5. 5
    Transient Hemichorea Associated With Mitochondrial Metabolic Stroke.

    Huang YJ, Lin WS. · 2026-04-25

    cited 1× unreviewed
  6. 6
    Blood-derived microRNA signatures associated with hippocampal structure and atrophy rate: findings from the Rhineland Study.

    Melas K, Talevi V, Imtiaz MA, Krüger DM, Pena-Centeno T, Fischer A, Aziz NA, Breteler MMB. · 2026-04-24

    unreviewed
  7. 7
    Pulmonary Hypertension with a High-Output Hemodynamic Profile in a Child with MELAS: A Case Report.

    Kanai M, Tsuru H, Onuki T, Nukaga S, Baba S, Tsukada M, Abe T, Numano F, Murayama K, Saitoh A. · 2026-08-08

    unreviewed
  8. 8
    Clinical development in primary mitochondrial diseases at a translational inflection point: Lessons, mechanisms, and emerging therapeutic strategies.

    Wang LT, Jhuang HY. · 2026-06-26

    unreviewed
  9. 9
    Impact of Time of Injection on the Efficacy and Safety of iGlarLixi Versus IDegAsp in Chinese People With Type 2 Diabetes: Exploratory Analysis of the Soli-D Study.

    Li X, Wang J, Liu T, Alvarez A, Lauand F, Melas-Melt L, Kang L, Du Q, Liu M. · 2026-05-25

    unreviewed
  10. 10
    Clarifications on the report of maternally inherited diabetes and deafness managed with an advanced hybrid closed loop system.

    Picolos MK, Papapostolou A, Christodoulou A, Tanteles GA, Kyriakidou A, Papaetis GS. · 2026-05-06

    unreviewed

External claims. These come from an index outside this database and are not checked against it. Treat them as leads.