Features include always present findings: Encephalopathy, Elevated circulating D-glyceric acid concentration, Elevated CSF D-glyceric acid concentration, and Seizure and others; and common findings: Bilateral tonic-clonic seizure, Delayed CNS myelination, Focal clonic seizure, and Cerebral cortical atrophy and others. 40 total HPO annotations.

GLYCTK encodes glycerate kinase (523 aa). Highest expression in Liver (178.6 TPM) and Small Intestine Terminal Ileum (36.6 TPM).

D-glyceric aciduria has been associated with mutations in the GLYCTK gene on chromosome 3.

GLYCTK is classified as a druggable target (Enzyme and Kinase categories) with score 0.0.

Genetic testing for GLYCTK is available. Testing is considered supportive for diagnosis.

Phenotype severity distribution: 13 always present features, 18 common features.

Estimated prevalence: Unknown (Unknown prevalence).

No clinical trials have been registered for D-glyceric aciduria.

3 publications have been identified in PubMed for D-glyceric aciduria. Research spans Review / Meta-Analysis (33%), Case Report / Case Series (33%), and Basic Science / Preclinical (33%).

Recent Publications

• Korwitz-Reichelt A (2026). [PMID: 41330740](https://pubmed.ncbi.nlm.nih.gov/41330740/). *Journal of inherited metabolic disease*. [Review / Meta-Analysis]

• Li Y (2025). [PMID: 40467571](https://pubmed.ncbi.nlm.nih.gov/40467571/). *Cell death discovery*. [Basic Science / Preclinical]

• Kingma SDK (2024). [PMID: 39619776](https://pubmed.ncbi.nlm.nih.gov/39619776/). *Molecular genetics and metabolism reports*. [Case Report / Case Series]