# Síndrome Leigh

> Página oficial: https://raras.org/doenca/sindrome-leigh
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 506 — https://www.orpha.net/en/disease/detail/506
- **CID-10**: G31.8
- **OMIM**: OMIM:256000 — https://omim.org/entry/256000

## Descrição clínica

Uma doença neurológica que piora com o tempo, definida por características específicas no tecido cerebral que mostram lesões no tronco cerebral e nos gânglios da base.

## Epidemiologia e herança

- **Prevalência**: Unknown
- **Padrão de herança**: Autosomal recessive, Mitochondrial inheritance, X-linked recessive

## Sinais e sintomas (232 fenótipos HPO)

- **Coreoatetose** — HPO: HP:0001266 (Ocasional (29-5%))
- **HP:0003676** — HPO: HP:0003676
- **HP:0001427** — HPO: HP:0001427
- **Início na infância** — HPO: HP:0003593
- **Herança autossômica recessiva** — HPO: HP:0000007
- **Início na infância** — HPO: HP:0011463 (Frequência: 2/2)
- **Acidose metabólica** — HPO: HP:0001942
- **Morfologia anormal do sistema reprodutor** — HPO: HP:0012243
- **Alimentação por gastrostomia na infância** — HPO: HP:0011471
- **Apneia central do sono** — HPO: HP:0010536
- **Braquicefalia** — HPO: HP:0000248
- **Hipopigmentação do cabelo** — HPO: HP:0005599
- **Morfologia anormal do coração** — HPO: HP:0001627
- **Função hepática diminuída** — HPO: HP:0001410
- **Esteatose hepática** — HPO: HP:0001397
- **Episódio semelhante a acidente vascular cerebral** — HPO: HP:0002401
- **EEG com frequências anormalmente lentas** — HPO: HP:0011203
- **Descargas epileptiformes multifocais** — HPO: HP:0010841
- **Distonia generalizada** — HPO: HP:0007325
- **Apneia obstrutiva do sono** — HPO: HP:0002870
- **Discinesia orofacial** — HPO: HP:0002310
- **Fibras musculares citocromo C oxidase-negativas** — HPO: HP:0003688
- **Morfologia cerebral anormal** — HPO: HP:0002060
- **Refluxo gastroesofágico** — HPO: HP:0002020
- **Incapacidade de andar** — HPO: HP:0002540
- **Fala pobre** — HPO: HP:0002465
- **Micrognatia** — HPO: HP:0000347
- **Hipospadia** — HPO: HP:0000047
- **Crise de início generalizado** — HPO: HP:0002197
- **Acidose láctica grave** — HPO: HP:0004900
- **Vômitos** — HPO: HP:0002013
- **Tempo de tromboplastina parcial prolongado** — HPO: HP:0003645
- **Acidose láctica persistente** — HPO: HP:0004898
- **Edema pulmonar** — HPO: HP:0100598
- **Hipoplasia do vermis cerebelar** — HPO: HP:0001320
- **Dismetria** — HPO: HP:0001310
- **Regurgitação mitral** — HPO: HP:0001653
- **Hipertelorismo** — HPO: HP:0000316
- **Valva aórtica bicúspide** — HPO: HP:0001647
- **Ânus em posição anterior** — HPO: HP:0001545
- _...e mais 192 sintomas. Ver https://raras.org/doenca/sindrome-leigh._

## Genes associados (13)

- **IARS2** — Isoleucine--tRNA ligase, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Aminoacyl-tRNA synthetase that catalyzes the specific attachment of isoleucine to its cognate tRNA (tRNA(Ile))
- **MT-ND6** — NADH-ubiquinone oxidoreductase chain 6 [Candidate gene tested in]
  - Função: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron a
- **MT-TK** [Candidate gene tested in]
- **MT-TW** [Candidate gene tested in]
- **MT-ND2** — NADH-ubiquinone oxidoreductase chain 2 [Candidate gene tested in]
  - Função: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron a
- **MT-ND1** — NADH-ubiquinone oxidoreductase chain 1 [Candidate gene tested in]
  - Função: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron a
- **MT-ND5** — NADH-ubiquinone oxidoreductase chain 5 [Candidate gene tested in]
  - Função: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron a
- **MT-TV** [Candidate gene tested in]
- **MT-ND3** — NADH-ubiquinone oxidoreductase chain 3 [Candidate gene tested in]
  - Função: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron a
- **MT-ATP6** — ATP synthase F(0) complex subunit a [Candidate gene tested in]
  - Função: Subunit a, of the mitochondrial membrane ATP synthase complex (F(1)F(0) ATP synthase or Complex V) that produces ATP from ADP in the presence of a proton gradient across the membrane which is generate
- **MT-TL1** [Candidate gene tested in]
- **MT-ND4** — NADH-ubiquinone oxidoreductase chain 4 [Candidate gene tested in]
  - Função: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron a
- **LRPPRC** — Leucine-rich PPR motif-containing protein, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: May play a role in RNA metabolism in both nuclei and mitochondria. In the nucleus binds to HNRPA1-associated poly(A) mRNAs and is part of nmRNP complexes at late stages of mRNA maturation which are po

## Medicamentos em desenvolvimento (1)

- VATIQUINONE — Fase Phase 2 (Quinone reductase 1 modulator)
- Fonte: https://platform.opentargets.org/disease/MONDO_0009723

## Ensaios clínicos ativos (6)

- **NCT05554835** [RECRUITING]: Global Registry and Natural History Study for Mitochondrial Disorders — https://clinicaltrials.gov/study/NCT05554835
- **NCT01793168** [RECRUITING]: Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford — https://clinicaltrials.gov/study/NCT01793168
- **NCT06967831** [RECRUITING]: Drug Repurposing for Mitochondrial Disorders Using iPSCs Derived Neural Cells — https://clinicaltrials.gov/study/NCT06967831
- **NCT03137355** [RECRUITING]: The International Registry for Leigh Syndrome — https://clinicaltrials.gov/study/NCT03137355
- **NCT06843811** [ENROLLING_BY_INVITATION]: Sirolimus for Leigh Syndrome — https://clinicaltrials.gov/study/NCT06843811
- **NCT06990984** [NOT_YET_RECRUITING]: A Dose-ranging Study of TTI-0102 in Adults and Children With Leigh Syndrome Spectrum (LSS) — https://clinicaltrials.gov/study/NCT06990984
- **NCT04378075** [TERMINATED]: A Study to Evaluate Efficacy and Safety of Vatiquinone for Treating Mitochondrial Disease in Participants With Refractory Epilepsy — https://clinicaltrials.gov/study/NCT04378075
- **NCT02023866** [COMPLETED]: Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease — https://clinicaltrials.gov/study/NCT02023866
- **NCT02352896** [COMPLETED]: Long-Term Safety and Efficacy Evaluation of EPI-743 in Children With Leigh Syndrome — https://clinicaltrials.gov/study/NCT02352896
- **NCT05277363** [WITHDRAWN]: A Study of the Natural Course of SURF1 Deficiency — https://clinicaltrials.gov/study/NCT05277363

## Doenças relacionadas (por similaridade fenotípica)

- [Acidose láctica congênita, tipo Saguenay-Lac-Saint-Jean](https://raras.org/doenca/acidose-lactica-congenita-tipo-saguenay-lac-saint-jean) — ORPHA:70472 — 105 sintomas em comum
- [Deficiência de complexo III isolada](https://raras.org/doenca/deficiencia-de-complexo-iii-isolada) — ORPHA:1460 — 71 sintomas em comum
- [Deficiência de coenzima Q10](https://raras.org/doenca/deficiencia-de-coenzima-q10) — ORPHA:35656 — 57 sintomas em comum
- [Síndrome de depleção do DNA mitocondrial, forma encefalomiopática com anomalias craniofaciais variáveis](https://raras.org/doenca/sindrome-de-deplecao-do-dna-mitocondrial-forma-encefalomiopatica-com-anomalias-craniofaciais-variaveis) — ORPHA:369897 — 57 sintomas em comum
- [Doença do metabolismo de aminoácidos de cadeia ramificada](https://raras.org/doenca/doenca-do-metabolismo-de-aminoacidos-de-cadeia-ramificada) — ORPHA:79197 — 55 sintomas em comum
- [Doença do metabolismo da tiamina](https://raras.org/doenca/doenca-do-metabolismo-da-tiamina) — ORPHA:298644 — 53 sintomas em comum
- [Neuro-hepatopatia de Navajo](https://raras.org/doenca/neuro-hepatopatia-de-navajo) — ORPHA:255229 — 53 sintomas em comum
- [Síndrome de hipotonia-transtorno da linguagem-transtorno do desenvolvimento intelectual grave](https://raras.org/doenca/sindrome-de-hipotonia-transtorno-da-linguagem-transtorno-do-desenvolvimento-intelectual-grave) — ORPHA:371364 — 53 sintomas em comum
- [Síndrome Leigh DNA mitocondrial-associado](https://raras.org/doenca/sindrome-leigh-dna-mitocondrial-associado) — ORPHA:255210 — 53 sintomas em comum
- [Acidemia metilmalônica com homocistinúria](https://raras.org/doenca/acidemia-metilmalonica-com-homocistinuria) — ORPHA:26 — 52 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

---

**Citação sugerida**: Raras.org — Síndrome Leigh. Disponível em: https://raras.org/doenca/sindrome-leigh
**Formato HTML**: https://raras.org/doenca/sindrome-leigh
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=506