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Sucrose intolerance or genetic sucrase-isomaltase deficiency (GSID) is the condition in which sucrase-isomaltase, an enzyme needed for proper metabolism of sucrose (sugar) and starch (e.g., grains), is not produced or the enzyme produced is either partially functional or non-functional in the small intestine. All GSID patients lack fully ...
Sucrase-isomaltase is a bifunctional glucosidase (sugar-digesting enzyme) located on the brush border of the small intestine, encoded by the human gene SI. It is a dual-function enzyme with two GH31 domains, one serving as the isomaltase , the other as a sucrose alpha-glucosidase .
Sacrosidase (trade name Sucraid) is a medication used to replace sucrase in people lacking this enzyme. [1] It is available as an oral solution. Sucraid is approved by the U.S. Food and Drug Administration (FDA) for the therapy of the genetically determined sucrase deficiency that is part of the Congenital Sucrase-Isomaltase Deficiency (CSID).
Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. [2] Another term used to describe these disorders is "enzymopathies". This term was created following the study of biodynamic enzymology , a science based on the study of the enzymes and their products.
One form, sucrase-isomaltase, is secreted in the small intestine on the brush border. [1] The enzyme invertase , which occurs more commonly in plants, fungi and bacteria, also hydrolyzes sucrose (and other fructosides) but by a different mechanism: it is a fructosidase, whereas sucrase is a glucosidase.
Glucose-galactose malabsorption generally becomes apparent in the first few weeks of a baby's life. Affected infants experience severe diarrhea resulting in life-threatening dehydration, increased acidity of the blood and tissues (), and weight loss when fed breast milk or regular infant formulas.
HFI is caused by a deficiency of fructose 1,6-biphosphate aldolase in the liver, kidney cortex and small intestine. Infants and adults are asymptomatic unless they ingest fructose or sucrose. [citation needed] Deficiency of hepatic fructose 1,6-biphosphate (FBPase) causes impaired gluconeogenesis, hypoglycemia and severe metabolic acidemia.
Succinic semialdehyde dehydrogenase deficiency; Succinyl-CoA acetoacetate transferase deficiency; Sucrase-isomaltase deficiency; Sucrose intolerance; Sudden cardiac death; Sudden infant death syndrome; Sudden sniffing death syndrome; Sugarman syndrome; Sulfatidosis juvenile, Austin type; Sulfite and xanthine oxydase deficiency; Sulfite oxidase ...