D-glyceric aciduria
Findings
No curated finding names D-glyceric aciduria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0009070), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
53 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Appendicular spasticityHPOHP:0034353
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- Elevated circulating D-glyceric acid concentrationHPOHP:6000371
- 1 of 1 reported patient
- Elevated CSF D-glyceric acid concentrationHPOHP:6000372
- 1 of 1 reported patient
- EncephalopathyHPOHP:0001298
- 11 of 11 reported patients
- Failure to thriveHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- GLYCTKHGNC:24247
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: D-glyceric aciduria
- Also called
- D-glycerate kinase deficiencyD-glyceric acidemia