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
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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
Central Sleep Apnea and Hypoventilation Disorders in Children.
Narang I, Au CT, Chen ML. · 2026-07-02
unreviewed -
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
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
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
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
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
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
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
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.