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GTR Home > Conditions/Phenotypes > Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

Synonyms
Combined oxidative phosphorylation deficiency 12; LEUKOENCEPHALOPATHY WITH THALAMUS AND BRAINSTEM INVOLVEMENT AND HIGH LACTATE
Modes of inheritance
No inheritance data available (Orphanet)

Summary

Combined oxidative phosphorylation deficiency-12 (COXPD12) is an autosomal recessive mitochondrial neurologic disorder characterized by onset in infancy of hypotonia and delayed psychomotor development, or early developmental regression, associated with T2-weighted hyperintensities in the deep cerebral white matter, brainstem, and cerebellar white matter. Serum lactate is increased due to a defect in mitochondrial respiration. There are 2 main phenotypic groups: those with a milder disease course and some recovery of skills after age 2 years, and those with a severe disease course resulting in marked disability (summary by Steenweg et al., 2012). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060). [from OMIM]

Available tests

39 tests are in the database for this condition.

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Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: COXPD12, MSE1, gluRS, mtGlnRS, mtGluRS, EARS2
    Summary: glutamyl-tRNA synthetase 2, mitochondrial

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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