galactosemia造句

• A milder form of galactosemia, called Galactokinase deficiency, is caused a lack of the enzyme uridine diphosphate galactose-4-epimerase which breaks down a byproduct of galactose.
• For example, all states in the US screen for classic galactosemia in their NBS panel, but some states have lower GALT enzyme activity cut-off levels than others.
• In classic galactosemia, galactose-1-phosphate uridylyltransferase activity is reduced or absent, leading to an accumulation of the precursors, galactose, galactitol and Gal-1-P.
• The March of Dimes recommends newborn screening for PKU and hypothyroidism, sickle cell and five more rare diseases : congenital adrenal hyperplasia, biotinidase, homocystinuria, maple syrup urine disease and galactosemia.
• Therefore, the ingestion of formula or breast milk does not affect the outcome of this part of the NBS, and the NBS is accurate for detecting galactosemia prior to any ingestion of galactose.
• On initial screening, which often involves measuring the concentration of galactose in blood, classic galactosemia may be indistinguishable from other inborn errors of galactose metabolism, including galactokinase deficiency and galactose epimerase deficiency.
• All forms of galactosemia are inherited in an autosomal recessive manner, meaning individuals affected with classic galactosemia must have inherited a mutated copy of the " GALT " gene from both parents.
• All forms of galactosemia are inherited in an autosomal recessive manner, meaning individuals affected with classic galactosemia must have inherited a mutated copy of the " GALT " gene from both parents.
• Other recognised causes are Wilson's disease ( a genetically inherited condition of copper metabolism ), Lowe syndrome, tyrosinemia ( type I ), galactosemia, glycogen storage diseases, and hereditary fructose intolerance.
• _Galactosemia, affecting one baby in 50, 000 who is born missing the liver enzyme needed to convert the milk sugar galactose into glucose and leading to blindness, severe mental retardation, infection and death.