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GTR Home > Conditions/Phenotypes > D-Glyceric aciduria

D-Glyceric aciduria

Synonyms
D-Glycerate kinase deficiency; D-Glycericacidemia; Deficiency of glycerate kinase; GLYCERATE KINASE DEFICIENCY; Non ketotic hyperglycinemia syndrome
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

D-glyceric aciduria is a rare autosomal recessive metabolic disorder with a highly variable phenotype. Some patients have an encephalopathic presentation, with severe mental retardation, seizures, microcephaly, and sometimes early death, whereas others have a mild phenotype with only mild speech delay or even normal development (summary by Sass et al., 2010). [from OMIM]

Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HBEBP2, HBEBP4, HBeAgBP4A, GLYCTK
    Summary: glycerate kinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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