# Deficiência de complexo I isolada

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

## Identificadores

- **ORPHA**: 2609 — https://www.orpha.net/en/disease/detail/2609
- **CID-10**: G71.3
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Tipo de doença mitocondrial caracterizada por macrocefalia (cabeça grande) com leucodistrofia progressiva, encefalopatia, cardiomiopatia hipertrófica, miopatia, doença hepática, síndrome de Leigh, neuropatia óptica hereditária de Leber e algumas formas de doença de Parkinson. A doença é causada por mutações em qualquer um dos muitos genes e o padrão de herança depende do gene responsável.

## Epidemiologia e herança

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

## Sinais e sintomas (264 fenótipos HPO)

- **Hipotonia** — HPO: HP:0001252 (Muito frequente (99-80%))
- **Mialgia** — HPO: HP:0003326
- **Aumento da fatigabilidade muscular** — HPO: HP:0003750
- **Fadiga** — HPO: HP:0012378
- **Edema mitocondrial** — HPO: HP:0030774
- **Hiponatremia** — HPO: HP:0002902
- **Infecções recorrentes do trato respiratório inferior** — HPO: HP:0002783
- **Úraco patente** — HPO: HP:0010479
- **Leucomalácia periventricular** — HPO: HP:0006970
- **Corpos de nemalina** — HPO: HP:0003798
- **Hiperprolinemia** — HPO: HP:0008358
- **Cisterna magna aumentada** — HPO: HP:0002280
- **Neuropatia periférica** — HPO: HP:0009830
- **Infecções respiratórias recorrentes** — HPO: HP:0002205
- **Fadiga fácil** — HPO: HP:0003388
- **Hipertricose** — HPO: HP:0000998
- **Mialgia induzida por exercício** — HPO: HP:0003738
- **Palpitações** — HPO: HP:0001962
- **Doença renal crônica estágio 5** — HPO: HP:0003774
- **Morfologia anormal do coração** — HPO: HP:0001627
- **Dispneia** — HPO: HP:0002094
- **Defeito do septo atrial** — HPO: HP:0001631
- **Corpo caloso displásico** — HPO: HP:0006989
- **Hipertonia de membro** — HPO: HP:0002509
- **Amiotrofia distal** — HPO: HP:0003693
- **Anormalidade no EEG** — HPO: HP:0002353
- **Bronquiectasia** — HPO: HP:0002110
- **Hipoplasia cerebelar** — HPO: HP:0001321
- **Oligodramnia** — HPO: HP:0001562
- **Atrofia do corpo caloso** — HPO: HP:0007371
- **Opistótono** — HPO: HP:0002179
- **Crise não motora (ausência) generalizada** — HPO: HP:0002121
- **Criptorquidia** — HPO: HP:0000028
- **Defeito do septo ventricular perimembranoso** — HPO: HP:0011682
- **Anemia** — HPO: HP:0001903
- **Nível reduzido de N-acetil aspartato cerebral por MRS** — HPO: HP:0012708
- **Cardiomegalia** — HPO: HP:0001640
- **Padrão giratório simplificado** — HPO: HP:0009879
- **Contagem total de neutrófilos diminuída** — HPO: HP:0001875
- **Pequeno para a idade gestacional** — HPO: HP:0001518
- _...e mais 224 sintomas. Ver https://raras.org/doenca/deficiencia-de-complexo-i-isolada._

## Genes associados (41)

- **MT-ND1** — NADH-ubiquinone oxidoreductase chain 1 [Disease-causing germline mutation(s) 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
- **NDUFA12** — NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12 [Disease-causing germline mutation(s) in]
  - Função: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons fro
- **NDUFB7** — NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 7 [Disease-causing germline mutation(s) in]
  - Função: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons fro
- **NDUFA2** — NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 [Disease-causing germline mutation(s) in]
  - Função: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons fro
- **DNAJC30** — DnaJ homolog subfamily C member 30, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Mitochondrial protein enriched in neurons that acts as a regulator of mitochondrial respiration (By similarity). Associates with the ATP synthase complex and facilitates ATP synthesis (By similarity).
- **NDUFC2** — NADH dehydrogenase [ubiquinone] 1 subunit C2 [Disease-causing germline mutation(s) in]
  - Função: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis but required for the complex assembly. Complex I func
- **NDUFB8** — NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 8, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons fro
- **NDUFA13** — NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 13 [Disease-causing germline mutation(s) in]
  - Função: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis (PubMed:27626371). Complex I functions in the transfe
- **NDUFA9** — NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 9, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Required for proper complex I assembly (PubMed:28671
- **MTFMT** — Methionyl-tRNA formyltransferase, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Methionyl-tRNA formyltransferase that formylates methionyl-tRNA in mitochondria and is crucial for translation initiation
- **NDUFA10** — NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons fro
- **NDUFA8** — NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 8 [Disease-causing germline mutation(s) in]
  - Função: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis (PubMed:27626371, PubMed:32385911, PubMed:33153867).
- **NDUFAF6** — NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 [Disease-causing germline mutation(s) in]
  - Função: Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of complex I subunit MT-ND1
- **NDUFAF5** — Arginine-hydroxylase NDUFAF5, mitochondrial [Disease-causing germline mutation(s) in]
  - Função: Arginine hydroxylase that mediates hydroxylation of 'Arg-111' of NDUFS7 and is involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT-ND1) at early stages (Pub
- **NDUFV1** — NADH dehydrogenase [ubiquinone] flavoprotein 1, mitochondrial [Disease-causing germline mutation(s) 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

## Ensaios clínicos ativos (1)

- **NCT05162768** [COMPLETED]: Study to Evaluate Efficacy and Safety of Elamipretide in Subjects With Primary Mitochondrial Disease From Nuclear DNA Mutations (nPMD) — https://clinicaltrials.gov/study/NCT05162768

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## Importante

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

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