Leigh syndrome due to mitochondrial complex V deficiency

MedGen UID:: 376835
•Concept ID:: C1850600
•: Disease or Syndrome

Synonym:

Leigh Syndrome due to Mitochondrial Complex V Deficiency

Term Hierarchy

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 V deficiency

Professional guidelines

PubMed

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.

Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J
J Inherit Metab Dis 2012 Sep;35(5):749-59. Epub 2012 Jan 10 doi: 10.1007/s10545-011-9440-3. PMID: 22231385

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Recent clinical studies

Etiology

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.

Mitochondrial gene expression changes in normal and mitochondrial mutant cells after exposure to ionizing radiation.

Kulkarni R, Marples B, Balasubramaniam M, Thomas RA, Tucker JD
Radiat Res 2010 May;173(5):635-44. doi: 10.1667/RR1737.1. PMID: 20426663

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.

Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E
Brain 2009 Jan;132(Pt 1):136-46. Epub 2008 Nov 16 doi: 10.1093/brain/awn296. PMID: 19015156

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.

Morava E, Rodenburg RJ, Hol F, de Vries M, Janssen A, van den Heuvel L, Nijtmans L, Smeitink J
Am J Med Genet A 2006 Apr 15;140(8):863-8. doi: 10.1002/ajmg.a.31194. PMID: 16532470

The expanding clinical spectrum of mitochondrial diseases.

De Vivo DC
Brain Dev 1993 Jan-Feb;15(1):1-22. doi: 10.1016/0387-7604(93)90002-p. PMID: 8338207

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Diagnosis

Mitochondrial DNA 8993T>G mutation in a child with ornithine transcarbamylase deficiency and leigh syndrome: an unexpected association.

Henriques M, Diogo L, Garcia P, Pratas J, Simões M, Grazina M
J Child Neurol 2012 Aug;27(8):1059-61. Epub 2012 Jan 12 doi: 10.1177/0883073811431015. PMID: 22241703

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.

Analysis of the mitochondrial complex I-V enzyme activities of peripheral leukocytes in oxidative phosphorylation disorders.

Ma YY, Zhang XL, Wu TF, Liu YP, Wang Q, Zhang Y, Song JQ, Wang YJ, Yang YL
J Child Neurol 2011 Aug;26(8):974-9. Epub 2011 May 3 doi: 10.1177/0883073811399905. PMID: 21540367

Mitochondrial gene expression changes in normal and mitochondrial mutant cells after exposure to ionizing radiation.

Kulkarni R, Marples B, Balasubramaniam M, Thomas RA, Tucker JD
Radiat Res 2010 May;173(5):635-44. doi: 10.1667/RR1737.1. PMID: 20426663

Evoked potentials in children with oxidative metabolic defects leading to Leigh syndrome.

Taylor MJ, Robinson BH
Pediatr Neurol 1992 Jan-Feb;8(1):25-9. doi: 10.1016/0887-8994(92)90048-4. PMID: 1313675

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