Details of Disease

General Information of Disease (ID: DIS0DL0F)

Disease Name D-glyceric aciduria
Synonyms non ketotic hyperglycinemia syndrome; D-glycericacidemia; glycerate kinase deficiency; d-glyceric aciduria; D-glyceric acidemia; D-glycerate kinase deficiency
Definition
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.
Disease Hierarchy
DISDS4G7: Disorder of galactose and fructose metabolism
DIS0DL0F: D-glyceric aciduria
Disease Identifiers
MONDO ID
MONDO_0009070
UMLS CUI
C0342765
OMIM ID
220120
MedGen ID
452447
Orphanet ID
941
SNOMED CT ID
237980004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GLYCTK OTVTBNSM Strong Autosomal recessive [1]
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References

1 D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK). Hum Mutat. 2010 Dec;31(12):1280-5. doi: 10.1002/humu.21375. Epub 2010 Nov 9.