Sentence Examples

  • 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.
  • 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.
  • 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.
  • 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.
  • 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.