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

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 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

Prognosis

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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Clinical prediction guides

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

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

See all (2)

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Leigh syndrome due to mitochondrial complex V deficiency

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Prognosis

Clinical prediction guides

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