Skip to content
MS
mtDNA or nuclear Mitochondrial / AR unreviewed

Leigh syndrome

Enzyme or protein defect

Multiple ETC / PDC subunits

Accumulates or becomes deficient

Lactate

Key features

Subacute necrotising encephalomyelopathy; brainstem and basal ganglia lesions

Management

Supportive

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

  1. 1
    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
  2. 2
    Central Sleep Apnea and Hypoventilation Disorders in Children.

    Narang I, Au CT, Chen ML. · 2026-07-02

    unreviewed
  3. 3
    Predicting recurrence risk of Leigh syndrome using prenatal mtDNA heteroplasmy assessment.

    Shishimorova M, Ma H, Koski A, Dyken CV, Gutierrez NM, Frana D, Li Y, Eyberg D, Tevkin S, Hayama T, Kang E, A… · 2026-05-13

    unreviewed
  4. 4
    From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to <i>PDHA1</i> Variants.

    Corbaz S, Pibernus DA, Loos MA, Pérez MM, Buompadre MC, García FM, Rodriguez MP, Rugilo C, Armeno M, Seo GH, … · 2025-12-23

    unreviewed
  5. 5
    Folding the message: mRNA structure as a regulatory layer of human mitochondrial gene expression.

    Ahn A, Hong S, Brischigliaro M, Fontanesi F, Barrientos A. · 2026-06-09

    unreviewed
  6. 6
    Mitochondria limit coenzyme Q export under cholesterol biosynthetic stress.

    Ndoci M, Bhattacharya S, Agrawal I, Hinze Y, Lemke K, Schumacher AL, Uijttewaal E, Elling U, Lawo S, Giavalis… · 2026-06-08

    cited 1× open access unreviewed
  7. 7
    Generation of an iPSC line IUFi004-A-13 with homozygous NDUFS1 mutation for the study of Leigh syndrome.

    Jerred C, Ramachandran H, Hildebrandt B, Zink A, Ventura N, Rossi A, Prigione A. · 2026-04-28

    unreviewed
  8. 8
    Immune Modulatory Therapy for Severe Dengue Hemorrhagic Fever in a Patient With Mitochondrial Complex I Deficiency: A Case Report.

    Iness AN, Walimbe AS, Strouphauer ER, Hirano M, Iglesias AD, Emmanuele V, Griffin CC, Kaplan SL, Gomes WA, Mo… · 2026-07-24

    unreviewed
  9. 9
    Integrated exome and mitochondrial genome sequencing reveals the genetic landscape of primary mitochondrial diseases: findings from a large Tunisian cohort.

    Gouiza I, Bouzidi A, Hechmi M, Charif M, Zioudi A, Kheriji N, Boudabous H, Zribi M, Khatrouch S, Kebaili R, B… · 2026-07-22

    unreviewed
  10. 10
    TTC19-related mitochondrial disease: A characteristic neuroimaging signature?

    Bérat CM, Barcia G, Gaignard P, Assouline Z, De La Cruz E, François-Heude MC, Roubertie A, Cances C, Dufour L… · 2026-07-19

    unreviewed

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