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

Rare Disease

phosphoenolpyruvate carboxykinase deficiency, cytosolic

MONDO:0009866

Also known as:PCK1 deficiency, cytosolicPCKDCPEP carboxykinase deficiency

Overview

PEPCK1 deficiency is a rare inborn error of metabolism disorder, characterized by the deficiency of the enzyme PEPCK1, one of the enzymes needed for gluconeogenesis, the process by which organisms produce sugars (namely glucose) from non-carbohydrate precursors (such as amino acids). The symptoms described in the few cases reported in the medical literature suggest that there may be variation in the severity of the symptoms ranging from severe early-onset cases, to milder late-onset presentations. In severe cases symptoms may include persistent and very low levels of blood's sugar in newborns (neonatal hypoglycemia), failure to thrive, build-up of lactic acid in the blood (lactic acidosis), liver enlargement (hepatomegaly) and liver failure leading to neurological degeneration. Milder cases present during childhood with fewer and less serious liver problems. Infections and fasting may trigger the symptoms. PEPCK1 deficiency inheritance is autosomal recessive. It is caused by mutations in the PEPCK1 gene. Some researchers believe that the severity of the disease depend upon the mutations resulting in less or more PEPCK1 activity (the more active the enzyme is, the less severe the disease is, and vice versa). Treatment depend on the symptoms and may include giving extra carbohydrates during heavy exercise and illness or other times of fasting (formal sick day regimen) by the dietitian.PEPCK1 is the cytosolic form of the phosphoenolpyruvate carboxykinase (PEPCK) enzyme, the other being the mitochondrial (PEPCK2).

GeneticsAutosomal recessive · PCK1 (chr 20)

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:44 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:261680

Orphanet

European rare disease database

Orphanet:79316

GARD

Genetic and Rare Diseases Info Center

GARD:4278

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Features include always present findings: Hepatic failure, Elevated circulating alanine aminotransferase concentration, Reduced phosphoenolpyruvate carboxykinase activity in cultured fibroblasts, and Increased hepatic echogenicity and others. 21 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	5	Hepatic steatosis, Hepatic failure, Enlarged liver (hepatomegaly)
Brain and nerves	4	Brain shrinkage (cerebral atrophy), Seizure, Global developmental delay
Muscles	2	Brain shrinkage (cerebral atrophy), Damage to the optic nerve (optic atrophy)
Lab test results	1	Elevated circulating alanine aminotransferase concentration
Kidneys and urinary system	1	Renal steatosis
Eyes	1	Damage to the optic nerve (optic atrophy)
Lungs and breathing	1	Apnea

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, cytosolic.

10 publications have been identified in PubMed for phosphoenolpyruvate carboxykinase deficiency, cytosolic. Research spans Basic Science / Preclinical (60%), Case Report / Case Series (30%), and Epidemiology / Natural History (10%).

Research Type	Count	% of Total
Laboratory research	6	60%
Patient case studies	3	30%
Disease patterns and progression	1	10%

Recent Publications

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]
Pérez-López J (2026). [PMID: 40994076](https://pubmed.ncbi.nlm.nih.gov/40994076/). *Plant Cell Environ*. [Basic Science / Preclinical]
Tan L (2026). [PMID: 41735846](https://pubmed.ncbi.nlm.nih.gov/41735846/). *BMC Plant Biol*. [Basic Science / Preclinical]
Bernhardt I (2026). [PMID: 41549939](https://pubmed.ncbi.nlm.nih.gov/41549939/). *Am J Med Genet A*. [Epidemiology / Natural History]
Rashwan AG (2025). [PMID: 39794453](https://pubmed.ncbi.nlm.nih.gov/39794453/). *Sci Rep*. [Basic Science / Preclinical]
Burg D (2025). [PMID: 40092582](https://pubmed.ncbi.nlm.nih.gov/40092582/). *Mol Genet Metab Rep*. [Case Report / Case Series]
Duś-Żuchowska M (2024). [PMID: 38656928](https://pubmed.ncbi.nlm.nih.gov/38656928/). *Am J Case Rep*. [Case Report / Case Series]
Liu R (2024). [PMID: 38560500](https://pubmed.ncbi.nlm.nih.gov/38560500/). *Genes Dis*. [Basic Science / Preclinical]
Shou DW (2024). [PMID: 39211938](https://pubmed.ncbi.nlm.nih.gov/39211938/). *J Dig Dis*. [Basic Science / Preclinical]

Kisho

phosphoenolpyruvate carboxykinase deficiency, cytosolic

Overview

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

phosphoenolpyruvate carboxykinase deficiency, cytosolic

Overview

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications