Leigh syndrome due to mitochondrial complex III deficiency

MedGen UID:: 376834
•Concept ID:: C1850598
•: Disease or Syndrome

Synonym:

Leigh Syndrome due to Mitochondrial Complex III Deficiency

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 III deficiency

Recent clinical studies

Etiology

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.

Mordaunt DA, Jolley A, Balasubramaniam S, Thorburn DR, Mountford HS, Compton AG, Nicholl J, Manton N, Clark D, Bratkovic D, Friend K, Yu S
Am J Med Genet A 2015 Jun;167(6):1330-6. Epub 2015 Apr 21 doi: 10.1002/ajmg.a.36968. PMID: 25899669

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Diagnosis

Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum.

Sturrock BRH, Macnamara EF, McGuire P, Kruk S, Yang I, Murphy J; Undiagnosed Diseases Network, Tifft CJ, Gordon-Lipkin E
Mol Genet Genomic Med 2021 Jun;9(6):e1692. Epub 2021 May 7 doi: 10.1002/mgg3.1692. PMID: 33960148 Free PMC Article

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Clinical prediction guides

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.

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MedGen

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Leigh syndrome due to mitochondrial complex III deficiency

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

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Genetic Testing Registry

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Reviews

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