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Mitochondrial phosphoenolpyruvate carboxykinase deficiency
European Journal of Pediatrics
|April 1, 1986
Summary
A rare genetic disorder caused severe liver and kidney problems in an infant, leading to hypoglycemia and death. Enzyme deficiency in phosphoenolpyruvate carboxykinase was identified as the likely cause.
Area of Science:
- Biochemistry
- Pediatric Medicine
- Genetics
Background:
- Infantile metabolic disorders can present with severe, multi-organ dysfunction.
- Early diagnosis and understanding of metabolic pathways are crucial for managing critical illness in neonates and infants.
Observation:
- A 3-month-old infant exhibited anorexia, failure to thrive, drowsiness, jaundice, hepatomegaly, and edema.
- The infant presented with disordered liver function, giant cell hepatitis, Fanconi syndrome, and profound hypoglycemia, exacerbated by fasting.
- Clinical deterioration included lactic acidosis, irritability, hypotonia, and ultimately, hepatocellular failure and septicemia, leading to death.
Findings:
- Post-mortem examination revealed massive fatty degeneration of the liver.
- Cultured skin fibroblasts showed significantly reduced activity (16% of controls) of the enzyme phosphoenolpyruvate carboxykinase (PEPCK).
- The infant's brother had previously died at 4 weeks of age from sudden infant death syndrome, suggesting a possible inherited condition.
Implications:
- This case highlights a potential genetic defect in gluconeogenesis due to PEPCK deficiency as a cause of severe infantile liver disease and hypoglycemia.
- Understanding the role of PEPCK in hepatic energy metabolism is vital for diagnosing and potentially treating similar rare metabolic disorders.
- Further research into PEPCK deficiency and its clinical spectrum is warranted to improve outcomes for affected infants.