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
Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency.
Keshavan N, Neugebauer J, Bellusci M, Bertini E, Brown G, Darin N, DeBrosse S, Drexler L, Drexler S, Enns GM,… · 2026-11-01
cited 1× open access unreviewed -
2
Disease-mutations perturb proton transfer reactions in respiratory complex I.
Saura P, Badolato S, Gangdal A, Beghiah A, Kaila VRI. · 2026-08-17
unreviewed -
3
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 -
4
DNM1L depletion leads to accelerated heteroplasmy shifting of m.10191C allele through ATG7-dependent pathways.
Geng M, Wang D, Kavoosi S, Kaufman BA, Sondheimer N. · 2026-06-27
unreviewed -
5
Current translational perspectives for diagnosis and individualized therapy in rare genetic diseases.
Niazi SK. · 2026-10-02
open access unreviewed -
6
Remodeling of mitochondrial dynamics by metabolic pathways couples to oncogenic growth in <i>GNAS</i> (Gα<sub>s</sub>) mutant pancreas cancer.
Hagedorn GA, Spieser JC, Hirai N, Sato Y, Valentine J, Jiang H, Wang W, Czyzyk-Krzeska MF, Patra KC. · 2026-09-30
open access unreviewed -
7
Myelin Impairment and Regeneration in the Central Nervous System: Molecular Mechanisms, Diseases, and Prospective Therapeutic Targets.
Huang L, Cheng P, Liu G, Xiang Y, Hong Z, Le W. · 2026-09-20
open access unreviewed -
8
Preparing Genetic Counselors for Advocacy Partnerships: A Novel Internship Model.
Kalista M, Kessler LJ, Requesens D, Valverde KD, Mueller R. · 2026-10-01
open access unreviewed -
9
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 -
10
Primary Mitochondrial-Disorders-Associated Nephropathy in Adulthood.
Bakis H, Trimouille A, Schwarz M, Combe C, Boudhabhay I, Martin-Négrier ML, Rigothier C. · 2026-08-03
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.