Galactosemia

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Created by
Enj Rey

Cards (5)

  • XI. GALACTOSEMIA
    ● Galactosemia is a rare genetic disorder of carbohydrate metabolism that affects an individual's ability to metabolize the sugar galactose properly.
    ○ It is not related to and should not be confused with lactose intolerance. This is galactose intolerance
    ● It follows an autosomal recessive mode of inheritance that confers a deficiency of the liver enzyme galactose 1-phosphate uridyltransferase responsible for galactose degradation into glucose.
  • ● Looking at the photo, we ingest lactose in food mainly from dairy products. This lactose is converted or broken down into glucose and galactose by the enzyme lactase.
    ● First is glucose, it is already used by the body for energy. The other is galactose which needs the liver enzyme so it breaks down into another glucose so that the body can use it for energy.
    ● But in galactosemia, the absence of the liver enzyme will prevent conversion of galactose into glucose. There is build-up of toxic levels of galactose in the blood destroys many body cells
  • ASSESSMENT
    1. As soon as child begins feeding, lethargy, hypotonia, diarrhea, and vomiting may occur.
    2. Liver enlarges, cirrhosis develops.
    3. Jaundice is present and persistent.
    4. Bilateral cataracts develop.
    5. Cognitive impairment.
  • ● The symptoms usually begin abruptly and they worsen rapidly. If the condition remains untreated, a child may even die by 3 years of age. Untreated children who survive beyond this time may have cataracts and be cognitively challenged.
    ● Diagnosis is made by measuring the level of affected enzyme in the red blood cells. An erythrocyte galactose 1- phosphate uridyltransferase level as high as 120 mg/dL signifies the disease. The normal is less 1 mg/dL.
  • MANAGEMENT
    ● Treatment is a lifetime diet free of lactose or galactose.
    ● Milk substitutes such as casein hydrolysates (Nutramigen) can be given.
    Once the child’s condition is regulated on this diet, symptoms of the disease do not progress. However, any neurologic or cataract damage that is already present will continue to persist.