Hereditary fructose intolerance. Fructose-1,6-phosphate aldolase deficiency
Incidence
1:20.000. AR inheritance. Rare in US but common in Europe.
Clinical Characteristics
Intestinal disturbances, nausea & vomiting following the ingestion of fructose lead to hypoglycemia in 30-90 minutes later, with ketosis. Poor weight gain, liver and kidney damage. Jaundice, hepatomegaly is present, with fructosuria and albuminuria. Aminoaciduria also follow the intake of fructose or sucrose (glucose + fructose). Mild MR is often present, as well as flaccid quadriparesis. Liver cirrhosis is usually marked.
Precipitants
Fructose ingestion trigger hypoglycemic episode 30-90 minutes later, with GI symptoms.
Provocation Tests
Fructose tolerance test IV 100-200 mg/kg will produce elevation of lactic acid and hypoglycemia.
Diagnostic Procedures
EB-liver. DB-W. Benedict test positive (glucosuria negative).