HWN Suggests

There are currently no approved therapies for Galactosemia

Currently, the only method of managing Galactosemia is to keep patients on a strict diet that removes any lactose (another type of sugar) or galactose-containing foods and drinks. In babies, this usually means switching from breast milk or milk-based formula to a low galactose formula, such as soy or elemental formula.

However, galactose is also produced by the body. This means that diet alone does not prevent the long-term consequences of Galactosemia. A treatment for those living with Galactosemia is desperately needed.

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Articles of Interest

Breastfeeding and Galactosemia

There are three basic forms of galactosemia: classic galactosemia, clinical variant galactosemia and biochemical variant galactosemia (Duarte galactosemia). Each one has its own clinical picture and recommended care plan.

Classic Galactosemia: A Day in the Life

On an average morning, Beate Weiss-Krull wakes up and makes breakfast for her two little girls – Alena who is eight years old and Mia Rose who is six years old. The girls love freezer waffles, pancakes, and toast.

Current and Future Treatments for Classic Galactosemia

Type I (classic) galactosemia, galactose 1-phosphate uridylyltransferase (GALT)-deficiency is a hereditary disorder of galactose metabolism. The current therapeutic standard of care, a galactose-restricted diet, is effective in treating neonatal complications but is inadequate in preventing burdensome complications.

Despite Galactosemia, Ella Grace is a Healthy Baby Girl

Luckily we were still in the hospital (6 days at this point) when her newborn screening results came back. My husband had just left the hospital for the night and her pediatrician came into my room. The look on his face brought instant tears to my eyes. The look on his face confirmed my fears that something serious was wrong with our baby girl!

Galactosemia, a Single Gene Disorder With Epigenetic Consequences

Long-term outcomes of classic galactosemia (GAL) remain disappointing. It is unclear if the complications result mainly from prenatal-neonatal toxicity or persistent glycoprotein and glycolipid synthesis abnormalities.

Galactosemia: The good, the bad, and the unknown

Studies of these enzymes, and the disorders associated with their loss, have led to a much deeper appreciation of the intricate and interwoven levels of regulation that govern their normal function.

Infants At Risk Due To Blood-Test Delays

Galactosemia is one of these disorders that can very quickly endanger a newborn's life. Babies that are affected cannot process galactose, which is a sugar in milk. And if you're a little baby, you're eating breast milk or formula, which has galactose. And as they drink the breast milk or formula, these toxins build up in their body, and children who have galactosemia can suffer brain damage within a matter of days.

Screening for galactosemia: is there a place for it?

Many countries include neonatal screening for galactosemia in their national newborn screening program; however, others do not, as the condition is rather rare, with an incidence of 1:30,000–1:100,000, and screening may be seen as not cost-effective and logistically demanding.

Sweet and sour: an update on classic galactosemia

Classic galactosemia is a rare inherited disorder of galactose metabolism caused by deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of the Leloir pathway. It presents in the newborn period as a life-threatening disease, whose clinical picture can be resolved by a galactose-restricted diet. The dietary treatment proves, however, insufficient in preventing severe long-term complications, such as cognitive, social and reproductive impairments.

The natural history of classic galactosemia: lessons from the GalNet registry

Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to be very effective to treat the neonatal life-threatening manifestations and has been the cornerstone of treatment for this severe disease.

What You Need To Know About Galactosemia

Infants may not have symptoms at birth, but usually experience issues like vomiting, jaundice, and problems gaining weight soon after being born. People with galactosemia are typically diagnosed in infancy. If untreated, galactosemia is fatal in 75% of infants.

Resources

Galactosemia Registry

The Galactosemia Patient Registry collects Galactosemia specific natural history data about individuals with the disorder, with the goal of improving the better understanding the condition and informing treatment development. Registry questionnaires were built from common data element standards and cover the following topics:

GLOW for Galactosemia

We are a family fun race event set up to advocate, fundraise, and build community for those who live with Galactosemia.

Galactosemia Foundation

Our foundation advocates for people with Galactosemia and their families. We connect families and support networking efforts between clinicians and researchers.

Galactosemia Research Study

Classic galactosemia is an inborn error of metabolism that impacts about 1:50,000 babies born each year in the US and many other countries. Neonatal identification by newborn screening, coupled with rapid and life-long dietary restriction of galactose, generally achieved by switching the baby from breast milk or dairy milk formula to a low-galactose formula, prevents the potentially lethal acute symptoms of the disease.

Galactosemia.com

As part of the Galactosemia community, we're on this journey together. Let's help one another find our way forward.

NORD

Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body’s ability to convert galactose to glucose. Galactose is a sugar contained in milk, including human mother’s milk as well as other dairy products. It is also produced by the human body, and this is called endogenous galactose. Glucose is a different type of sugar. The disorder is caused by a deficiency of an enzyme galactose-1-phosphate uridylyl transferase (GALT) which is vital to this process.

Pediatrics in Review

Galactosemia, first described in the early 1900s by von Reuss, is an autosomal recessive inborn error of carbohydrate metabolism characterized by the inability to convert galactose to glucose. In 1970, Louis Leloir won the Nobel Prize in Chemistry for defining the pathway of galactose catabolism.

NewbornScreening.info

This fact sheet has general information about galactosemia. Every child is different and some of these facts may not apply to your child specifically. Certain treatments may be advised for some children but not others.