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Alex R Genetics Case Study
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Galactosemia

Galactosemia is a liver disease caused by the lack of liver enzymes to digest galactose.

In the case study I saw that the patient was jaundice.  Knowing that when you are jaundice there is something wrong with your liver i was able to know where to look. The persons liver enzymes were deranged with SGOT. An ultrasound showd prominent hepatic arterey with coarse liver echotexture. Her urine showed high traces of galactose with galactolia and galactonate. This let me know to diagnose the patient with galactosemia.

Treatments
Treatment for galactosemia is the elimination of galactose and lactose from the diet throughout life.  A person with galactosemia will never be able to properly digest foods containing galactose.  There is no chemical or drug substitute for the missing enzyme at this time.  An infant diagnosed with galactosemia will simply be changed to a soy-based formula that does not contain galactose.  Galactosemia is often confused with lactose intolerance, but please keep in mind that galactosemia is a disease.  A person with galactosemia will not "grow out of" it.
  • galactose free diet
  • soy milk
  • vitamins E, K, A, C
  • ureodeoxycholic acid

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Alex Rodgers