Galactosemia sentence example

galactosemia
  • Currently, formulas made from soy are recommended for infants with galactosemia, primary and secondary lactase deficiency and for families choosing a vegetarian lifestyle.
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  • Phenylketonuria, Tay-Sachs disease, and galactosemia are inborn errors of metabolism.
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  • Galactosemia is an inherited disease in which the body is unable to metabolize the simple sugar galactose, which is found primarily in dairy products but is also produced by the body.
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  • Galactosemia is a rare but potentially life-threatening disease resulting from the body's inability to metabolize galactose.
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  • Persons with galactosemia either have very low levels of or are entirely lack the enzyme that assists the body in breaking down galactose.
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  • The severity of the disease may vary from person to person, because some individuals with galactosemia have higher levels of this enzyme than do others.
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  • The two main types of galactosemia are called classic and Duarte variant.
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  • Individuals with the classic type of galactosemia lack the enzyme activity necessary to metabolize galactose.
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  • Individuals with the Duarte variant have approximately 5-20 percent of the enzyme activity necessary to metabolize this sugar and often do not have signs or symptoms of galactosemia.
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  • In galactosemia, the gene mutation which occurs is inherited in what is known as an autosomal recessive pattern.
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  • The parents of children are called "carriers" of the disorder, because though they themselves do not have galactosemia, they may have children who do.
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  • Unfortunately, as of 2004, parents had no way of knowing if they carry the mutated gene that causes galactosemia until they have a child diagnosed with the disease.
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  • Galactosemia is an inherited disorder that occurs in approximately one out of 30,000 live births.
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  • The incidence for the Duarte variant type of galactosemia is estimated to be one in 16,000 live births.
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  • Although galactosemia occurs in all ethnic groups worldwide, some mutations cause a less severe type of disease and are more commonly seen in specific ethnic groups, such as African-Americans.
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  • In Japan, classic galactosemia is not diagnosed as frequently as it is in Caucasian populations in the United States.
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  • If an infant with galactosemia is given milk, byproducts of galactose will build up in the baby's body, causing damage to the liver, kidneys, brain, and eyes.
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  • Characteristically, a newborn with galactosemia who is fed milk products will have jaundice, vomiting, lethargy, irritability, and convulsions.
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  • Parents should notify their doctor if their child displays any of the symptoms of galactosemia.
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  • Couples should consult their physician if there is a family history of galactosemia, and they are considering having a child.
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  • As of late 2004, all 50 states had mandatory screening of newborns for galactosemia.
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  • If parents receive a call from a healthcare provider saying the screening test indicates possible galactosemia, they should promptly stop milk products and have a blood test done for galactosemia through their doctor.
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  • Galactosemia is treated by removing foods that contain galactose from the diet.
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  • Because milk and milk products are the most common food source of galactose, persons with galactosemia should avoid ingesting these foods.
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  • It is recommended that persons with galactosemia avoid eating foods with galactose throughout their entire lives.
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  • However, all persons with galactosemia should limit galactose intake as much as possible.
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  • Parents of a child with galactosemia should note that lactose is often used as filler in medicines.
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  • Approximately 75 percent of the babies with galactosemia who are not diagnosed and treated die within the first two weeks of life.
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  • However, even with proper treatment, children with galactosemia often have a lower intelligence quotient (IQ) than their siblings, and they frequently have speech problems.
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  • Since galactosemia is a recessive genetic disease, it is usually first detected on a newborn screening test, as most people are not aware that they are carriers of a gene mutation causing the disease.
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  • If there is a family history of galactosemia, genetic counseling is recommended for prospective parents as they make decisions regarding pregnancy and prenatal testing.
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  • Once one child in a family is diagnosed with galactosemia, it is recommended that other members of the family receive genetic counseling as well.
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  • One of the most important things parents of a child with galactosemia can do is educate themselves thoroughly on an appropriate diet.
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  • Bosch, Annet M., et al. "Living with Classical Galactosemia: Health-Related Quality of Life Consequences."
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