Screening for galactosemia | 合法醫療器材資訊網
由MAKotb著作·2019·被引用5次—Earlydetectionandinterventionbyrestrictinggalactoseisnot...Hence,nationalnewbornscreeningforgalactosemiaprevents...andinothermetabolicdiseases;hence,thetestisnon-specific....HaqueSK,Aricet
Pediatrics Department, Faculty of Medicine, Kasr Al Ainy, Cairo University, Cairo, Egypt
Abstract: Galactose is a hexose essential for production of energy, which has a prebiotic role and is essential for galactosylation of endogenous and exogenous proteins, ceramides, myelin sheath metabolism and others. The inability to metabolize galactose results in galactosemia. Galactosemia is an autosomal recessive disorder that affects newborns who are born asymptomatic, apparently well and healthy, then develop serious morbidity and mortality upon consuming milk that contains galactose. Those with galactosemia have a deficiency of an enzyme: classic galactosemia (type 1) results from severe deficiency of galactose-1-uridylyltransferase, while galactosemia type II results from galactokinase deficiency and type III results from galactose epimerase deficiency. Many countries include neonatal screening for galactosemia in their national newborn screen...
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Screening for galactosemia | 合法醫療器材資訊網
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