What is Galactosemia?
Classic Galactosemia is a rare genetic metabolic disorder inherited through a gene from both parents, who are carriers. Normally, when a person consumes a product containing lactose, such as milk, cheese, or butter, the body breaks the lactose down into the sugars glucose and galactose. Glucose is used by the body for energy, while galactose is converted into usable glucose. In galactosemia, the enzyme that converts galactose into glucose is missing. An excess of galactose accumulates in the blood. The build-up of galactose is a poison to the body, and can cause serious complications such as enlarged liver, kidney failure, cataracts, and brain damage.
HOW IS GALACTOSEMIA DIAGNOSED?
Diagnosis is usually made within the first weeks of life by a "heel prick" blood test that is part of the newborn screening process. Early screening is literally a lifesaver for little ones with classic galactosemia. Up to 75 percent of infants with this disorder will die - within days - if untreated.
ARE THERE ANY EARLY SYMPTOMS?
An infant with classic galactosemia usually appears normal at birth. If galactosemia is not detected at birth with testing, symptoms usually occur within the first few days or weeks of life after the baby drinks breast milk or a lactose-containing formula. Those symptoms may include jaundice, vomiting, poor weight gain, feeding difficulties, irritability, lethargy, and convulsions.
Another serious problem is susceptibility to E. coli sepsis, which has a 60 percent mortality rate. If the child is diagnosed before sepsis sets in, all symptoms should disappear.
HOW IS GALACTOSEMIA TREATED?
The only treatment currently available is the strict limitation of galactose from the diet. Milk sugar, lactose, is made up of galactose and glucose, so all products containing milk must be avoided. Infants may be fed with soy formula, meat-based formula, or other lactose-free formula. Metabolic treatment providers have some variation in other items that should be limited or avoided. In general, products to avoid include milk, breast milk, butter, cheese, dry milk solids, cream, sour cream, buttermilk, margarine, lactose, milk chocolate, casein, curds, and whey. In addition, some fruits and vegetables may be limited as well as fermented soy products, organ meats (liver, heart, kidney, brains, pancreas), hydrolyzed meat protein, legumes, and monosodium glutamate (MSG).
In addition, some medications and supplements have fillers that contain galactose or lactose; parents should check with their pharmacist. To further ensure proper diet in case of emergency,
Some parents purchase a MedicAlert bracelet for their child to wear everyday. The bracelets are engraved with a message such as "Galactosemia: No Dairy" or "Galactosemia: Lactose-Free Diet." Even with a special diet, galactosemic children have a high incidence of long-term complications involving speech and language, fine and gross motor skill delays, and specific learning disabilities. Ovarian failure may occur in girls. However, through diet restrictions, medical advancement, and an increasingly wide variety of safe foods, many children are leading normal lives.