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phosphoenolpyruvate carboxykinase deficiency - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

phosphoenolpyruvate carboxykinase deficiency

MONDO:0017320

Also known as:PEPCK deficiencyphosphoenolpyruvate carboxykinase (GTP) deficiency

Overview

Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.

ResearchLimited published research (8 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Recurrent hypoglycemia; and common findings: Increased circulating lactate concentration, Hypoglycemic seizures, Lactic acidosis, and Hyperglutaminemia and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	4	Increased circulating lactate concentration, Increased urine alpha-ketoglutarate concentration, Elevated circulating aspartate aminotransferase concentration

Prognosis

Phenotype severity distribution: 1 very common feature, 9 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for phosphoenolpyruvate carboxykinase deficiency.

8 publications have been identified in PubMed for phosphoenolpyruvate carboxykinase deficiency. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (38%), and Review / Meta-Analysis (13%).

Recent Publications

Novoa E (2026). [PMID: 41734768](https://pubmed.ncbi.nlm.nih.gov/41734768/). *Cell Metab*. [Basic Science / Preclinical]
Vasiļevska L (2026). [PMID: 41608521](https://pubmed.ncbi.nlm.nih.gov/41608521/). *JIMD Rep*. [Case Report / Case Series]
Lei Y (2026). [PMID: 41910356](https://pubmed.ncbi.nlm.nih.gov/41910356/). *Aging Cell*. [Basic Science / Preclinical]
Bernhardt I (2026). [PMID: 41549939](https://pubmed.ncbi.nlm.nih.gov/41549939/). *Am J Med Genet A*. [Case Report / Case Series]
Burg D (2025). [PMID: 40092582](https://pubmed.ncbi.nlm.nih.gov/40092582/). *Mol Genet Metab Rep*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 3:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:2880

GARD

Genetic and Rare Diseases Info Center

GARD:16613

Questions for Your Care Team

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phosphoenolpyruvate carboxykinase deficiency

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

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