phosphoenolpyruvate carboxykinase deficiency
MeSH: C536654ORPHA: 2880
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with phosphoenolpyruvate carboxykinase deficiency, sourced from HPO and Orphanet clinical annotations.
Neurodevelopmental delayMicrocephalyHyperammonemiaRecurrent hypoglycemiaIncreased circulating lactate concentrationHypoglycemic seizuresLactic acidosisHyperglutaminemiaLacticaciduriaIncreased urine alpha-ketoglutarate concentrationElevated circulating aspartate aminotransferase concentrationElevated circulating alanine aminotransferase concentrationElevated urine fumaric acid levelHypotoniaLethargyHypoglycemic comaHepatic steatosisDecreased liver functionNeonatal hypoglycemiaVomitingDrowsinessAcute encephalopathy
Classification & Codes
MeSH Code
C536654Orphanet Code
ORPHA:2880phosphoenolpyruvate carboxykinase deficiency
| MeSH | C536654 |
| Orphanet | ORPHA:2880 |
| Treatments | 0 drug(s) |
| Symptoms on record | 22 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO