pediatrics
Fructose Metabolism Disorders
Fructose 1 phosphate aldolase (aldolase B) deficiency
This deficiency causes the clinical syndrome of hereditary fructose intolerance. Inheritance is Autosomal Recessive ; incidence is estimated at 1/20,000 births. Infants are healthy until they ingest fructose; fructose 1-phosphate then accumulates, causing hypoglycemia, nausea and vomiting, abdominal pain, sweating, tremors, confusion, lethargy, seizures, and coma. Prolonged ingestion may cause cirrhosis, mental deterioration, and Diagnosis of fructose 1-phosphate aldolase deficiency is suggested by symptoms in relation to recent fructose intake and is confirmed by DNA analysis. Previous confirmatory testing used liver biopsy or induction of hypoglycemia by fructose infusion 200 mg/kg IV. Diagnosis and identification of heterozygous carriers of the mutated gene can also be made by direct DNA analysis. (Also see Initial testing .) Short-term treatment of fructose 1-phosphate aldolase deficiency is glucose for hypoglycemia; long-term treatment is exclusion of dietary fructose, sucrose, andsorbitol. Many patients develop a natural aversion to fructose-containing food. Prognosis is excellent with treatment. 