GLUD1 encodes glutamate dehydrogenase 1 (558 aa). Mitochondrial glutamate dehydrogenase that catalyzes the conversion of L-glutamate into alpha-ketoglutarate. Highest expression in Liver (306.2 TPM) and Brain Nucleus accumbens basal ganglia (296.5 TPM).

Hyperinsulinism-hyperammonemia syndrome is caused by mutations in the GLUD1 gene on chromosome 10.

The GLUD1 protein participates in alpha-ketoglutarate + NH4+ + NAD(P)H + H+ glutamate + NAD(P)+ (GLUD1,2), glutamate + NAD(P)+ = alpha-ketoglutarate + NH4+ + NAD(P)H + H+ (GLUD1,2), and Transcriptional Regulation by MECP2 pathways.

GLUD1 is classified as a druggable target (Enzyme category) with score 52.2.

Genetic testing for GLUD1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 3 very common features, 10 common features.

Estimated prevalence: Unknown (Unknown prevalence).

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

11 publications have been identified in PubMed for hyperinsulinism-hyperammonemia syndrome. Research spans Case Report / Case Series (36%), Review / Meta-Analysis (27%), and Basic Science / Preclinical (18%).

Recent Publications

• Bennett JJ (2026). [PMID: 42184599](https://pubmed.ncbi.nlm.nih.gov/42184599/). *EBioMedicine*. [Basic Science / Preclinical]

• Rosenfeld E (2026). [PMID: 41980002](https://pubmed.ncbi.nlm.nih.gov/41980002/). *Horm Res Paediatr*. [Review / Meta-Analysis]

• Wong T (2026). [PMID: 41982675](https://pubmed.ncbi.nlm.nih.gov/41982675/). *Front Pharmacol*. [Review / Meta-Analysis]

• Velde CD (2025). [PMID: 38963811](https://pubmed.ncbi.nlm.nih.gov/38963811/). *The Journal of clinical endocrinology and metabolism*. [Epidemiology / Natural History]

• Yavas Abali Z (2025). [PMID: 40382736](https://pubmed.ncbi.nlm.nih.gov/40382736/). *Endocrine*. [Case Report / Case Series]

• Zeng Z (2025). [PMID: 40573270](https://pubmed.ncbi.nlm.nih.gov/40573270/). *Pharmaceuticals (Basel, Switzerland)*. [Basic Science / Preclinical]

• Abdulghfar MM (2025). [PMID: 40652260](https://pubmed.ncbi.nlm.nih.gov/40652260/). *Journal of medical case reports*. [Case Report / Case Series]

• Sherin S (2024). [PMID: 39759686](https://pubmed.ncbi.nlm.nih.gov/39759686/). *Cureus*. [Case Report / Case Series]

• Cheng M (2024). [PMID: 40302972](https://pubmed.ncbi.nlm.nih.gov/40302972/). *Pediatric diabetes*. [Epidemiology / Natural History]

• Aleshina YA (2024). [PMID: 38673928](https://pubmed.ncbi.nlm.nih.gov/38673928/). *International journal of molecular sciences*. [Review / Meta-Analysis]