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D-glyceric aciduria

Orpha number ORPHA941
Synonym(s) D-glycerate kinase deficiency
D-glyceric acidemia
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset All ages
ICD-10
  • D72.5
ICD-O -
OMIM
UMLS
  • C1291386
MeSH
  • C535767
MedDRA -
SNOMED CT -

Summary

D-glyceric aciduria is a metabolic disorder characterized by D-glyceric acid excretion. It has been described in several patients. Clinical findings include progressive neurological impairment, hypotonia, seizures, failure to thrive and metabolic acidosis. Some patients had hyperglycinemia secondary to the organic acidemia. However, some of the reported patients were asymptomatic. D-glyceric aciduria is caused by D-glycerate kinase deficiency. The GLYCTK gene has been mapped to 3p21.


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