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GTR Home > Conditions/Phenotypes > D,L-2-hydroxyglutaric aciduria

D,L-2-hydroxyglutaric aciduria

Synonyms
Combined D-2- and L-2-hydroxyglutaric aciduria
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Combined D-2- and L-2-hydroxyglutaric aciduria (D-2-HG and L-2-HG) is an autosomal recessive neurometabolic disorder characterized by neonatal-onset encephalopathy with severe muscular weakness, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death. Brain imaging shows abnormalities including enlarged ventricles, delayed myelination, and germinal layer cysts (summary by Muntau et al., 2000). See also isolated L-2-hydroxyglutaric aciduria (236792) and isolated D-2-hydroxyglutaric aciduria (see 600721). [from OMIM]

Available tests

8 tests are in the database for this condition.

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Clinical tests (8 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CIC, CMS23, CTP, D2L2AD, SEA, SLC20A3, SLC25A1
    Summary: solute carrier family 25 member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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