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    Galactosemia

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    nyx001
    Galactosemia is a rare genetic disorder that affects the body's ability to metabolize the sugar galactose. It is caused by deficiencies in enzymes needed to break down galactose. Without treatment, galactose builds up in the bloodstream, which can damage organs like the liver and brain and cause issues like jaundice, vomiting, and failure to thrive. People with galactosemia must avoid all milk and milk-containing foods their entire lives to prevent toxic buildup of galactose. With a strict galactose-free diet started early, patients can live relatively normal lives, though complications can still occur.

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    Galactosemia

    Uploaded by

    nyx001
    371 views3 pages
    Galactosemia is a rare genetic disorder that affects the body's ability to metabolize the sugar galactose. It is caused by deficiencies in enzymes needed to break down galactose. Without treatment, galactose builds up in the bloodstream, which can damage organs like the liver and brain and cause issues like jaundice, vomiting, and failure to thrive. People with galactosemia must avoid all milk and milk-containing foods their entire lives to prevent toxic buildup of galactose. With a strict galactose-free diet started early, patients can live relatively normal lives, though complications can still occur.

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    galactosemia

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    Galactosemia is a rare genetic disorder that affects the body's ability to metabolize the sugar galactose. It is caused by deficiencies in enzymes needed to break down galactose. Without treatment, galactose builds up in the bloodstream, which can damage organs like the liver and brain and cause issues like jaundice, vomiting, and failure to thrive. People with galactosemia must avoid all milk and milk-containing foods their entire lives to prevent toxic buildup of galactose. With a strict galactose-free diet started early, patients can live relatively normal lives, though complications can still occur.

    Copyright:

    Attribution Non-Commercial (BY-NC)
    Download as DOC, PDF, TXT or read online from Scribd
    Download as doc, pdf, or txt
    371 views3 pages

    Galactosemia

    Uploaded by

    nyx001
    Galactosemia is a rare genetic disorder that affects the body's ability to metabolize the sugar galactose. It is caused by deficiencies in enzymes needed to break down galactose. Without treatment, galactose builds up in the bloodstream, which can damage organs like the liver and brain and cause issues like jaundice, vomiting, and failure to thrive. People with galactosemia must avoid all milk and milk-containing foods their entire lives to prevent toxic buildup of galactose. With a strict galactose-free diet started early, patients can live relatively normal lives, though complications can still occur.

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    • GAL (Galactosemia) - is a rare genetic metabolic disorder which affects an individual's

    ability to properly metabolize the sugar galactose. Lactose in food (such as dairy
    products) is broken down by the body into glucose and galactose. In individuals with
    galactosemia, the enzymes needed for further metabolism of galactose are severely
    diminished or missing entirely, leading to toxic levels of galactose to build up in the
    blood, resulting in hepatomegaly (an enlarged liver), cirrhosis, renal failure, cataracts,
    and brain damage. Without treatment, mortality in infants with galactosemia is about
    75%.

    Causes

    Galactosemia is an inherited disorder. This means it is passed down through families.

    It occurs in approximately 1 out of every 60,000 births among Caucasians. The rate is different
    for other groups.

    There are three forms of the disease:

    • Galactose-1 phosphate uridyl transferase deficiency (classic galactosemia, the most


    common and most severe form)
    • Deficiency of galactose kinase
    • Deficiency of galactose-6-phosphate epimerase

    People with galactosemia are unable to fully break down the simple sugar galactose. Galactose
    makes up half of lactose, the sugar found in milk. The other sugar is glucose.

    If an infant with galactosemia is given milk, substances made from galactose build up in the
    infant's system. These substances damage the liver, brain, kidneys, and eyes.

    Persons with galactosemia cannot tolerate any form of milk (human or animal). They must be
    careful about eating other foods containing galactose.

    Symptoms

    Infants with galactosemia can develop symptoms in the first few days of life if they eat formula
    or breast milk that contains lactose. The symptoms may be due to a serious blood infection with
    the bacteria E. coli.

    • Convulsions
    • Irritability
    • Lethargy
    • Poor feeding (baby refuses to eat formula containing milk)
    • Poor weight gain
    • Yellow skin and whites of the eyes (jaundice)
    • Vomiting
    Exams and Tests

    Signs include:

    • Amino acids in the urine and/or blood plasma (aminoaciduria)


    • Enlarged liver (hepatomegaly)
    • Fluid in the abdomen (ascites)
    • Low blood sugar (hypoglycemia)

    Newborn screening in many states will test for this condition.

    Tests include:

    • Blood culture for bacteria infection (E. coli sepsis)


    • Enzyme activity in the red blood cells
    • Ketones in the urine
    • Prenatal diagnosis by directly measuring the enzyme galactose-1-phosphate uridyl
    transferase
    • "Reducing substances" in the infant's urine, and normal or low blood sugar while the
    infant is being fed breast milk or a formula containing lactose

    Treatment

    People with this condition must avoid all milk, milk-containing products (including dry milk),
    and other foods that contain galactose for life. It is essential to read product labels and be an
    informed consumer.

    Infants can be fed with:

    • Soy formula
    • Meat-based formula or Nutramigen (a protein hydrolysate formula)
    • Another lactose-free formula

    Calcium supplements are recommended.

    Support Groups

    Parents of Galactosemic Children, Inc.

    www.galactosemia.org

    Outlook (Prognosis)

    People who get an early diagnosis and strictly avoid milk products can live a relatively normal
    life. However, mild intellectual impairment may develop, even in people who avoid galactose.
    Possible Complications

    • Cataracts
    • Cirrhosis of the liver
    • Death (if there is galactose in the diet)
    • Delayed speech development
    • Irregular menstrual periods, reduced function of ovaries leading to ovarian failure
    • Mental retardation
    • Severe infection with bacteria (E. coli sepsis)
    • Tremors and uncontrollable motor functions

    When to Contact a Medical Professional

    Call your health care provider if:

    • Your infant has a combination of galactosemia symptoms


    • You have a family history of galactosemia and are considering having children

    Prevention

    It is helpful to know your family history. If you have a family history of galactosemia and want
    to have children, genetic counseling will help you make decisions about pregnancy and prenatal
    testing. Once the diagnosis of galactosemia is made, genetic counseling is recommended for
    other members of the family.

    Many states screen all newborns for galactosemia. If parents learn that the test indicates possible
    galactosemia, they should promptly stop giving their infant milk products and ask their health
    care provider about having a blood test done for galactosemia.

    Alternative Names

    Galactose-1-phosphate uridyl transferase deficiency; Galactokinase deficiency; Galactose-6-


    phosphate epimerase deficiency

    Etiology
    Deficiency of galactose-1-phosphate uridyl transferase, which is an important enzyme in the
    conversion of galactose to glucose
    Pathology arises from accumulation of the precursors (galactose-1-phosphate and galactitol)
    in the CNS, lens of the eye, liver, kidney, and other organs
    The major dietary source of galactose is milk lactose

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