phosphoenolpyruvate carboxykinase deficiency
Findings
No curated finding names phosphoenolpyruvate carboxykinase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0017320), read 2026-09-29. CC BY 4.0.
Features
22 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Recurrent hypoglycemiaHPOHP:0001988
- Very frequent (80% to 99% of cases)
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- Frequent (30% to 79% of cases)
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- Frequent (30% to 79% of cases)
- Elevated urine fumaric acid levelHPOHP:0034648
- Frequent (30% to 79% of cases)
- HyperglutaminemiaHPOHP:0003217
- Frequent (30% to 79% of cases)
- Hypoglycemic seizuresHPOHP:0002173
- Frequent (30% to 79% of cases)
Show the remaining 10
- DrowsinessHPOHP:0002329
- Occasional (5% to 29% of cases)
- Hepatic steatosisHPOHP:0001397
- Occasional (5% to 29% of cases)
- Hypoglycemic comaHPOHP:0001325
- Occasional (5% to 29% of cases)
- HypotoniaHPOHP:0001252
- Occasional (5% to 29% of cases)
- LethargyHPOHP:0001254
- Occasional (5% to 29% of cases)
- Neonatal hypoglycemiaHPOHP:0001998
- Occasional (5% to 29% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
2 names
Resolves to: phosphoenolpyruvate carboxykinase deficiency
- Also called
- PEPCK deficiencyphosphoenolpyruvate carboxykinase (GTP) deficiency