D-glyceric aciduria

D-glyceric aciduria is a metabolic disorder in which people excrete D-glyceric acid. This condition has been reported in several patients with a variety of clinical presentations. Some people show symptoms while others are asymptomatic. The condition is associated with a deficiency of the enzyme D-glycerate kinase, which is caused by genetic changes in the GLYCTK gene on chromosome 3p21. The clinical findings in affected individuals can include progressive neurological impairment, low muscle tone (hypotonia), seizures, failure to thrive, and metabolic acidosis, and in some cases, high levels of glycine in the blood (hyperglycinemia).

Common symptoms in people with D-glyceric aciduria can include progressive neurological impairment, poor muscle tone (hypotonia), seizures, difficulty growing (failure to thrive), and metabolic acidosis. Some people may also have high levels of glycine in the blood, though not every reported case shows symptoms.

D-glyceric aciduria is caused by a deficiency of the enzyme D-glycerate kinase. This is due to changes in the GLYCTK gene, which has been mapped to chromosome 3p21. This enzyme deficiency leads to the build-up and excretion of D-glyceric acid in the body.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.