Galactosemia is a rare genetic metabolic disorder. The individual with galactosemia must inherit a gene for galactosemia from both parents, who are carriers. Normally, when a person consumes a product that contains lactose (example: milk), the body breaks the lactose down into galactose and glucose. Glucose is the sugar that the body uses for energy, while galactose is the sugar the body can process into glucose for fuel. Galactosemia means there is too much galactose in the blood. This is caused by a "missing" enzyme that should process galactose.
An accumulation of galactose is very toxic to the body. As many as 75% of infants with galactosemia will die if the condition is untreated. If early diagnosis is not made, serious complications may also occur such as: liver damage or failure, cataracts, brain damage or infection.
Diagnosis is usually made within the first week of life by a heel prick blood test as part of the standard newborn screening. Treatment requires the strict exclusion of lactose/galactose from the diet. Although individuals with galactosemia are started on diet restriction at birth, we know there continues to be 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.
Hope does exist. Through diet restrictions, medical advancement and an increasingly wide variety of "safe" foods, many individuals lead "normal" lives. For this reason, galactosemic families look toward the future with optimism.