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D-glyceric aciduria

Disease definition

A rare inborn error of metabolism characterized by abnormal urinary excretion of D-glyceric acid due to D-glycerate kinase deficiency. Reported manifestations are highly variable and include a severe encephalopathic picture, chronic metabolic acidosis, developmental delay, intellectual disability, microcephaly, seizures, behavioral abnormalities, as well as only mild speech delay and apparently normal development.


Classification level: Disorder
  • Synonym(s):
    • D-glycerate kinase deficiency
    • D-glyceric acidemia
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: All ages
  • ICD-10: E74.8
  • ICD-11: 5C50.7Y
  • OMIM: 220120
  • UMLS: C1291386
  • MeSH: C535767
  • GARD: 234
  • MedDRA: -
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