hereditary fructose intolerance syndrome

A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldol

A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31.

Signs and symptoms

• Lethargy
• Hepatic steatosis
• Fructose intolerance
• Seizure
• Cirrhosis
• Hepatomegaly
• Glycosuria
• Reduced hepatic fructose-1,6-phosphate aldolase activity
• Transient aminoaciduria
• Failure to thrive

Also known as: Fructosaemia; Fructose-1,6-bisphosphate aldolase B deficiency; Fructosemia