D-glyceric aciduria

Term ID

DOID:0111626

Synonyms

• D-glycerate kinase deficiency
• D-glyceric acidemia
• D-glycericacidemia
• deficiency of glycerate kinase
• non ketotic hyperglycinemia syndrome

Definition

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. https://www.ncbi.nlm.nih.gov/pubmed/20949620

References

• GARD:234
• ICD10CM:E72.59
• MESH:C535767
• OMIM:220120
• ORDO:941
• UMLS_CUI:C1291386

Ontology

Human Disease   ( DOID:0111626 )