Version: 8.0.0
Date: Tue Jan 28 2025
D-glyceric aciduria
DOID:0111626
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

D-glyceric aciduria

Definition
An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2.
Synonyms
  • D-glycerate kinase deficiency
  • D-glyceric acidemia
Cross References
Parent Terms
Child Terms
None
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