GALACTOSEMIA

Galactosemia, which means “galactose in the blood”, is a rare inherited condition. People with galactosemia have problems digesting a type of sugar called galactose from the food they eat. Because they cannot break galactose down properly, it builds up in their blood. Galactose is found in milk and all foods that contain milk. Galactosemia occurs when an enzyme, called ‘galactose-1-phosphate uridyl transferase’ (GALT), is either missing or not working properly. Without enough GALT enzyme activity, galactose cannot be changed to glucose so it builds up in the blood in large amounts.

The birth prevalence of galactosaemia was 2.6 times greater in areas with a screening program. Which means most cases go undiagnosed in India due to lack of screening programs. Estimated global prevalence is between 1 in 30,000-60,000 live births.

SYMPTOMS OF GALACTOSEMIA

If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth. Affected infants typically develop feeding difficulties, a lack of energy, failure to grow and gain weight as expected (failure to thrive), yellowing of the skin and whites of the eyes (jaundice), liver damage, and abnormal bleeding. Other serious complications can include overwhelming bacterial infections (sepsis) and shock. Affected children are also at increased risk of developmental delay, clouding of the lens of the eye (cataract), speech difficulties, and intellectual disability. Females with classic galactosemia may experience reproductive problems caused by premature ovarian failure.

SYMPTOMS OF GALACTOSEMIA

If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth. Affected infants typically develop feeding difficulties, a lack of energy, failure to grow and gain weight as expected (failure to thrive), yellowing of the skin and whites of the eyes (jaundice), liver damage, and abnormal bleeding. Other serious complications can include overwhelming bacterial infections (sepsis) and shock. Affected children are also at increased risk of developmental delay, clouding of the lens of the eye (cataract), speech difficulties, and intellectual disability. Females with classic galactosemia may experience reproductive problems caused by premature ovarian failure.

TREATMENT FOR GALACTOSEMIA

  • Lactose and galactose-free diet: People with classic galactosemia are encouraged to follow a lactose and galactose-free food plan throughout life. Lactose or galactose are found in the following foods, all of which must be avoided:
    Milk and all dairy products,Processed and pre-packaged foods often contain lactose, Tomato sauces, Some candies, Certain medications – tablets, capsules, sweetened liquid drops that contain lactose as a filler, Some fruits and vegetables also contain galactose
    Any foods or drugs which contain the ingredients lactulose, casein, caseinate, lactalbumin, curds, whey, or whey solids.
  • Special lactose-free formula: Newborns with galactosemia are given a special formula free of lactose. The most common formulas used for babies with galactosemia are those made with soy protein isolate. Soy milk itself contains galactose and should not be used.
  • Calcium supplements: Children with galactosemia are often advised to take calcium supplements to ensure they receive enough calcium each day.

TREATMENT FOR GALACTOSEMIA

  • Lactose and galactose-free diet: People with classic galactosemia are encouraged to follow a lactose and galactose-free food plan throughout life. Lactose or galactose are found in the following foods, all of which must be avoided:
    Milk and all dairy products,Processed and pre-packaged foods often contain lactose, Tomato sauces, Some candies, Certain medications – tablets, capsules, sweetened liquid drops that contain lactose as a filler, Some fruits and vegetables also contain galactose
    Any foods or drugs which contain the ingredients lactulose, casein, caseinate, lactalbumin, curds, whey, or whey solids.
  • Special lactose-free formula: Newborns with galactosemia are given a special formula free of lactose. The most common formulas used for babies with galactosemia are those made with soy protein isolate. Soy milk itself contains galactose and should not be used.
  • Calcium supplements: Children with galactosemia are often advised to take calcium supplements to ensure they receive enough calcium each day.
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