Leigh syndrome due to mitochondrial complex I deficiency

MedGen UID:: 333220
•Concept ID:: C1838951
•: Disease or Syndrome

Synonyms:	Atpase Deficiency, Nuclear-Encoded; Leigh Syndrome Due To Mitochondrial Complex I Deficiency

OMIM®:	516001; 516005; 516006

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary hearing loss and deafness

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Inborn genetic diseases
  - Inborn errors of metabolism
    - Brain Diseases, Metabolic, Inborn
      - Leigh syndrome
        Leigh syndrome due to mitochondrial complex I deficiency

Recent clinical studies

Etiology

Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.

Danhelovska T, Kolarova H, Zeman J, Hansikova H, Vaneckova M, Lambert L, Kucerova-Vidrova V, Berankova K, Honzik T, Tesarova M
BMC Pediatr 2020 Jan 29;20(1):41. doi: 10.1186/s12887-020-1912-x. PMID: 31996177 Free PMC Article

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Diagnosis

Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.

Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.

Leslie N, Wang X, Peng Y, Valencia CA, Khuchua Z, Hata J, Witte D, Huang T, Bove KE
Hum Pathol 2016 Mar;49:27-32. Epub 2015 Oct 28 doi: 10.1016/j.humpath.2015.09.039. PMID: 26826406

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Prognosis

Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.

Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.

Leslie N, Wang X, Peng Y, Valencia CA, Khuchua Z, Hata J, Witte D, Huang T, Bove KE
Hum Pathol 2016 Mar;49:27-32. Epub 2015 Oct 28 doi: 10.1016/j.humpath.2015.09.039. PMID: 26826406

See all (2)

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Leigh syndrome due to mitochondrial complex I deficiency

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Prognosis

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