<unk>  <unk>  is an inborn error of fructose metabolism caused by a deficiency of the enzyme aldolase B. Individuals affected with<unk>  are asymptomatic until they ingest fructose, sucrose, or sorbitol. If fructose is ingested, the enzymatic block at aldolase B causes an accumulation of fructose-1-phosphate which, over time, results in the death of liver cells. This accumulation has downstream effects on gluconeogenesis and regeneration of adenosine triphosphate (ATP). Symptoms of<unk>  include vomiting, convulsions, irritability, poor feeding as a baby, hypoglycemia, jaundice, hemorrhage, hepatomegaly, hyperuricemia and potentially kidney failure. While<unk>  is not clinically a devastating condition, there are reported deaths in infants and children as a result of the metabolic consequences of<unk> . Death in<unk>  is always associated with problems in diagnosis.<unk>  is an autosomal recessive condition caused by mutations in the ALDOB gene, located at 9q31.1.<unk>  is typically suspected based on dietary history, especially in infants who become symptomatic after breast feeding. This suspicion is typically confirmed by molecular analysis Treatment of<unk>  involves strict avoidance of fructose in the diet. Older patients with<unk>  typically self-select a diet low in fructose, even before being diagnosed.
Hereditary fructose intolerance
Reactive hypoglycemia
Essential fructosuria
Galactosialidosis
Lysinuric protein intolerance
Congenital chloride diarrhea
Fructose malabsorption
Glucose-galactose malabsorption