D-Glyceric Aciduria
An autosomal recessive genetic disorder caused by mutations in the GLYCTK gene, encoding glycerate kinase. The condition is characterized by excretion of D-glyceric acid in the urine. The phenotype varies from mild to severe, and may result in encephalopathy, mental retardation, microcephaly and early death.
C0342765
C128804
Cellosaurus
D-Glyceric Aciduria
D-Glyceric Aciduria
Disease or Syndrome
Cellosaurus Disease Terminology
Cellosaurus Terminology
Rare Non-Neoplastic Disorder