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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

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

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: 31996177Free PMC Article

Diagnosis

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: 31996177Free PMC Article
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

Prognosis

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: 31996177Free PMC Article
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

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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