D-glyceric aciduria. D-glycerate kinase deficiency
Incidence
Autosomal recessive. Very rare condition.
Clinical Characteristics
In the son of nonconsanguineous Serbian parents, Brandt et al. (1974, 1976) described nonketotic hyperglycinemia with the excretion of D-glyceric acid in the urine and the presence of this substance in the serum. They suggested that the large amounts of glycine found in body fluids were secondary to a hitherto undescribed enzymatic defect in the degradation of D-glyceric acid. Kolvraa et al. (1976) found that D-glyceric dehydrogenase activity in blood leukocytes was low. They suggested that accumulation of glycine is secondary to the organic acidemia. Clinical features are delayed psychomotor development, mental retardation, and seizures. D-glycerate kinase deficiency is a cause (and perhaps the only cause) of D-glycericaciduria.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
D-glyceric academia. D-glyceric aciduria. Nonketotic hyperglycinemia.