Preferred Label : D-glyceric acidaemia;
ICD-11 definition : D-glyceric aciduria is 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.;
ICD-11 synonym : D-glyceric aciduria; D-glycerate kinase deficiency;
Origin ID : 1739985468;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- See also inter- (CISMeF)
D-glyceric aciduria is 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.
