Fructose inborn errors

Van den Berghe G Inborn errors of fructose metabolism. Annu Rev Nutr 1994 l4 4l. 

Understand the mechanisms for /V-acetylglucosamine biosynthesis and degradation of fructose and galactose, and inborn errors of metabolism associated with these pathways Appreciate the physiologic role of the glucuronate pathway and the inborn errors of metabolism associated with its malfunction ... 

An inborn error of liver fractose-1-phosphate aldolase (aldolase B) leads to a condition known as fructose intolerance. The condition is characterized by life-threatening liver damage that can occur after consuming fructose in the diet. Why is it life-threatening ... 

Food contains one polysaccharide (starch) and three disaccharides (maltose, sucrose, and lactose). Salivary and pancreatic amylase digests starch to yield maltose and sucrose, and lactose to yield maltose and sucrose. Sucrose, maltose, and lactose are split by invertase, maltase, and lactase, respectively. The products of the disaccharidase reactions are fructose, glucose, and galactose. Whenever amylase or one of the disacchari-dases is absent from the intestinal content, the undigested sugars pass in the lower part of the intestinal tract and are fermented by the bacterial flora. As a result, lactic acid and volatile acids are formed and stimulate peristalsis and fluid secretion by the intestinal mucosa. Liquid foaming acid and foul-smelling feces are emitted. Amylase may be absent in pancreatic disease. Inborn errors characterized by the absence of intestinal lactase, maltase, and invertase have been described. 

Levin, B., V. G. Oberholzer, G. J. A. I. Snodgrass, L. Stimmler, and H. J. Wilmers Fructosaemia an inborn error of fructose metabolism. Arch. Dis. Childh. 38, 220 (1963). Levy, S., and A. 0. G. Little Juvenile familial amaurotic idiocy (Vogt-Spielmeyer disease). Review of literature and clinical report of a case. Arch. Neurol. Psvchiat. (Chic.) 44, 1274... 

A monosaccharide obtained from dietary sources, either as the free sugar or as a part of the sucrose molecule. It is normally metabolized by the liver and kidney to glucose. Two inborn errors of fructose metabolism have been described ... 

An inborn error of metabolism in which there are metabolic disturbances, especially hypoglycaemia, after fructose ingestion. 

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