D-glyceric aciduria
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.
MONDO:0017703
disorder of glyoxylate metabolism
excluded_subClassOf
MONDO:0800152
disorder of galactose and fructose metabolism
is_a
D-glycerate kinase deficiency
exact
D-glyceric acidemia
exact
D-glycericacidemia
related
d-glyceric aciduria
exact
non ketotic hyperglycinemia syndrome
related