Conditions / Genetic
D-glyceric aciduria
info · Genetic · ICD-10: E72.59
An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2.
Signs and symptoms
- Encephalopathy
- Elevated circulating D-glyceric acid concentration
- Elevated CSF D-glyceric acid concentration
- Seizure
- Hypotonia
- Failure to thrive
- Axial hypotonia
- Opisthotonus
- Reduced hepatic D-glycerate kinase activity
- Spastic tetraplegia
Also known as: D-glycerate kinase deficiency; D-glyceric acidemia; D-glycericacidemia; deficiency of glycerate kinase; non ketotic hyperglycinemia syndrome