Neonatal Screening (Total Galactose) - Patient Education Guide

Untreated galactosemia can lead to severe complications such as liver damage, kidney failure, cataracts, and severe intellectual disability. These symptoms can begin to occur just a few days after a baby ingests galactose, usually through breast milk or formula.

The test is performed by taking a small blood sample from the baby's heel. The sample is then analyzed in a laboratory to measure the total galactose levels.

The baby may feel a quick prick or sting, but the pain is minimal and subsides quickly.

The risks associated with a heel prick are minimal. There may be slight discomfort, and occasionally a small bruise may form at the site of the prick.

The results are usually available within 48-72 hours.

Higher than normal levels of galactose can indicate the possibility of galactosemia. If the results are abnormal, further testing will be done to confirm the diagnosis.

The primary treatment for galactosemia is a strict lifelong diet that avoids all sources of galactose, which means excluding all milk and milk products. This helps to control the galactose levels in the body.

While there is no cure for galactosemia, the condition can be managed with a strict galactose-free diet, allowing those affected to lead healthy lives.

While galactosemia is a genetic disorder that is present at birth, some adults with mild forms of the disorder may not be diagnosed until later in life. Adults with galactosemia must also follow a strict galactose-free diet.

Galactosemia is an autosomal recessive genetic disorder, which means that both copies of the gene in each cell must have mutations for the disorder to develop.

Babies with galactosemia should not breastfeed due to lactose in human milk which breaks down into galactose. They should be fed a special lactose-free formula.

Yes, even with treatment, individuals with galactosemia may experience long-term complications such as speech difficulties, learning disabilities, neurological issues, and in females, ovarian failure.

Galactosemia is a rare disorder, affecting approximately 1 in every 30,000 to 60,000 newborns.

Yes, there are many organizations and online communities that offer support, resources, and information for families affected by galactosemia.

Yes, with early diagnosis and proper management of diet, a baby with galactosemia can have a normal lifespan. However, they may have some long-term complications and need to continue their special diet throughout their life.

Most people with galactosemia need to follow a strict galactose-free diet, as even small amounts of galactose can cause damage. However, individual tolerance may vary and should be discussed with a healthcare provider.

Yes, prenatal testing methods such as amniocentesis and chorionic villus sampling (CVS) can be used to test for galactosemia if there is a known risk, such as a family history of the condition.

Females with classic galactosemia often experience ovarian failure, which can make it more difficult to have children. Men typically have normal fertility.

Yes, research is being conducted in various areas, including understanding more about the genetic and biochemical aspects of the condition and developing new treatments or dietary strategies. Potential future therapies such as gene therapy are also being investigated.

If both parents are carriers of a gene mutation for galactosemia, each of their children has a 25% chance of having the condition, a 50% chance of being a carrier, and a 25% chance of neither having the condition nor being a carrier.

Most often, parents of a baby with galactosemia are carriers of the condition but do not have the condition themselves. This is because galactosemia is an autosomal recessive condition, which means both copies of the gene in each cell must have mutations for the disorder to develop.

A person with galactosemia should have regular check-ups to monitor their condition and to adjust their treatment as needed. The frequency of these check-ups will depend on the individual's age and health status.

With early diagnosis and strict adherence to a galactose-free diet, a person with galactosemia can lead a relatively normal life. However, they may have some long-term complications and will need to manage their condition throughout their life.

No, galactosemia and lactose intolerance are not the same. Galactosemia is a genetic disorder that affects the body's ability to convert galactose into glucose, leading to a buildup of galactose. Lactose intolerance is the inability to digest lactose, the main sugar found in milk and dairy products. It's usually caused by a deficiency of the enzyme lactase.