galactosemia


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galactosemia

(gəlăk'təsē`mēə), inherited metabolic disorder caused by an enzyme deficiency and transmitted as a recessive trait; it results in the accumulation of the sugar galactose in the body. The disorder is manifested soon after birth by feeding problems and diarrhea. Galactose is accumulated principally in the liver of the newborn infant, where it may induce cirrhosis, and in the lens of the eye, where cataracts may develop. Low glucose levels cause sufficient hypoglycemia to affect the central nervous system with resulting mental retardation. These ill effects can be prevented by removing milk and all other foods containing galactose and lactose from the diet.
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galactosemia

[gə‚lak·tō′sē·mē·ə]
(medicine)
A congenital metabolic disorder caused by an enzyme deficiency and marked by high blood levels of galactose.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
References in periodicals archive ?
Received FDA Orphan Drug Designation for AT-007 in Galactosemia. In May 2019, we received orphan drug designation for AT-007 in Galactosemia.
In conclusion, AR was overactivated by galactosemia and led to severe osmotic expansion in lenticular cells; subsequently, P-gp and Clcn3 were both upregulated due to lenticular cell swelling and tried to maintain the osmotic balance within galactosemic lenses.
Berry, "Galactosemia: when is it a newborn screening emergency?" Molecular Genetics and Metabolism, vol.
Material and Methods: This is a retrospective study that includes the moleculer and genetic charcteristics of 14 patient who were diagnosed as having galactosemia between January 2009 and January 2011.
In Brazil, with a population of highly mixed ethnicity, a study conducted in a sample of 60,000 neonates in the State of Sao Paulo found an incidence of galactosemia of 1:19,984 newborns (9).
(23) However, we thought that galactose was practically not an ideal candidate for restoration of the mutant enzyme in human tissues, as it is rapidly metabolized in cells and tissues, and the continuously high galactose concentration in somatic cells could cause direct galactose intoxication such as galactosemia, and result in pathological osmolarity in the extracellular fluid higher than that in the human blood under the physiological condition, causing significant dehydration, shrinkage and dysfunction of somatic cells.
Gaucher Disease, Maple Syrup Urine Disease, Pompe Disease, Galactosemia, Phenylketonuria, Methylmalonic Acidemia, Urea Cycle Defects, Hurler Syndrome, Hunter Syndrome, Prader-Willi Syndrome, Edward Syndrome and Patau Syndrome are just some of the rare diseases now identified in the Philippines.
Some of them are Fructose Intolerance, Galactosemia, and Phenylketonuria (PKU), etc.

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