label: D-Glyceric Aciduria
label_lc: d-glyceric aciduria
description: 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.