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[Recurrent acidosis with hypoglycemia in an infant: fructose-1,6-diphosphatase deficiency]
1Kinderklinik des Olgahospitals, Pädiatrisches Zentrum, Stuttgart.
Insights
Fructose-1,6-diphosphatase deficiency causes hypoglycemia and lactic acidosis in infants during fasting. Diagnosis via liver biopsy and treatment with dietary changes are crucial for managing this metabolic disorder.
Area of Science:
- Biochemistry
- Pediatric Metabolism
- Enzyme Deficiencies
Background:
- Fructose-1,6-diphosphatase is a critical enzyme in gluconeogenesis, the pathway for glucose synthesis.
- Deficiency in this enzyme disrupts glucose homeostasis, particularly during fasting states.
Observation:
- A seven-month-old infant experienced recurrent episodes of acidosis and hypoglycemia.
- These episodes were consistently triggered by fasting and febrile infections.
Findings:
- Diagnosis was confirmed by identifying fructose-1,6-diphosphatase enzyme deficiency in a liver biopsy.
- This deficiency directly links to the observed metabolic disturbances.
Implications:
- Early diagnosis and management are vital for preventing severe complications in affected infants.
- Treatment strategies involve dietary modifications (avoiding fructose/sucrose) and prompt management of acute metabolic crises.
Abstract:
A seven months old infant presented with recurrent episodes of acidosis and hypoglycemia triggered by fasting and febrile infections. The diagnosis of fructose-1,6-diphosphatase deficiency was made by demonstrating the enzyme deficiency in a liver biopsy specimen. Fructose-1,6-diphosphatase is a key enzyme of gluconeogenesis. Fructose-1,6-diphosphatase deficiency results in hypoglycemia and lactic acidosis during episodes of fasting. Diagnosis is made preferably by liver biopsy. Treatment includes elimination of fructose and sucrose from the diet and avoidance of fasting. Acute attacks are treated by intravenous infusion of glucose and bicarbonate if necessary.