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Features include: Hepatic steatosis, Hepatic failure, Renal steatosis, and Hypoglycemia and 1 more.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 2 | Hepatic steatosis, Hepatic failure |
Kidneys and urinary system |
No clinical trials have been registered for phosphoenolpyruvate carboxykinase deficiency, mitochondrial.
17 publications have been identified in PubMed for phosphoenolpyruvate carboxykinase deficiency, mitochondrial. Research spans Basic Science / Preclinical (82%), Case Report / Case Series (12%), and Gene Therapy / Novel Therapeutics (6%).
Research Type | Count | % of Total |
|---|---|---|
Laboratory research | 14 | 82% |
Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 6:22 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
1
Renal steatosis |
Patient case studies |
2 |
12% |
New treatment approaches | 1 | 6% |
Lei Y (2026). [PMID: 41910356](https://pubmed.ncbi.nlm.nih.gov/41910356/). *Aging Cell*. [Basic Science / Preclinical]
Lu Y (2026). [PMID: 42089792](https://pubmed.ncbi.nlm.nih.gov/42089792/). *Am J Physiol Renal Physiol*. [Basic Science / Preclinical]
Vieira CSD (2026). [PMID: 41811196](https://pubmed.ncbi.nlm.nih.gov/41811196/). *FASEB J*. [Gene Therapy / Novel Therapeutics]
de Oliveira Furtado EM (2026). [PMID: 41800647](https://pubmed.ncbi.nlm.nih.gov/41800647/). *FASEB J*. [Basic Science / Preclinical]
Lim HJ (2026). [PMID: 41781492](https://pubmed.ncbi.nlm.nih.gov/41781492/). *Exp Mol Med*. [Basic Science / Preclinical]
Bernhardt I (2026). [PMID: 41549939](https://pubmed.ncbi.nlm.nih.gov/41549939/). *Am J Med Genet A*. [Case Report / Case Series]
Chen W (2025). [PMID: 41223989](https://pubmed.ncbi.nlm.nih.gov/41223989/). *J Adv Res*. [Basic Science / Preclinical]
Burg D (2025). [PMID: 40092582](https://pubmed.ncbi.nlm.nih.gov/40092582/). *Mol Genet Metab Rep*. [Case Report / Case Series]
Otsuka Y (2025). [PMID: 39821719](https://pubmed.ncbi.nlm.nih.gov/39821719/). *FEBS Open Bio*. [Basic Science / Preclinical]
Rashwan AG (2025). [PMID: 39794453](https://pubmed.ncbi.nlm.nih.gov/39794453/). *Sci Rep*. [Basic Science / Preclinical]