GALACTOSEMIA 101
GALACTOSEMIA
What is Galactosemia?�Galactosemia is a rare metabolic condition (1 in 40,000–60,000 people and 3,000 in U.S.) that affects the body’s ability to process galactose. People with galactosemia do not have the enzymes in their DNA to break down galactose (found most commonly in dairy but also in some other foods). The buildup of galactose in the blood acts as a poison and can cause long-term complications.
What are the possible long-term complications of Galactosemia?�Research suggests that despite strict dietary adherence, developmental, speech and motor delays can develop as early as pre-school age and continue into adulthood.
Possible long-term complications include:
GALACTOSEMIA
What treatment is available?�Galactosemia is diagnosed early via the newborn screen and the mother is instructed to stop breastfeeding/giving dairy formula. While maintaining a dairy-free diet is the only current treatment available, early intervention and a dairy-free diet does not ensure a problem free future. The human body also produces galactose – called endogenous galactose - and because someone with galactosemia cannot process the galactose, it acts as a poison in their body.
Francesca is enrolled in the first ever clinical trial for a possible treatment, conducted by Applied Therapeutics. She started the clinical trial in 2021. Last week (Thursday and Friday) we spent two days at U of M hospital in Ann Arbor for 18-month appointments. We don’t know if Francesca is on the actual study drug or a placebo.
Once Applied Therapeutics submits their data to the FDA for possible drug approval the study will be unblinded (we think this should happen in the next few months) and we will know if Francesca is on the drug or placebo. If she is on placebo, she’ll be able to switch to the actual drug at that time, even before it receives FDA approval. To learn about the approval delays we experienced and the advocacy that happened last year, check out our blog.
TYPES OF GALACTOSEMIA
Other Types:
Type 2: GALK enzyme deficient
Type 3: GALE enzyme deficient
Type 4: GALM enzyme deficient
All types are in the same metabolic pathway and take a different part in breaking down galactose – and therefore have different long-term outcomes.
Francesca and Amelia are Type 1
Without a drug for treatment, the only thing we can do is ensure a galactose-free diet, which is mostly done by reading labels to make sure there are no dairy ingredients. Here are some tips to navigating label reading:
MAY CONTAIN: If the product has a “may contain” statement, it is allowed if there are no unacceptable ingredients listed. This is just another way of the company saying it is made in the same facility or on shared lines as dairy products.
Changing ingredients: You will find brands and products that are safe and end up being your go tos. But companies can change ingredients at any time, so it is important to continually check the ingredients list, even for your frequently used “safe” products.
READING LABELS
Milk is in the bold allergy statement – not safe
No dairy in the bold allergy statement or ingredients - safe
May contain: Allowed – it’s another way of saying made on the same equipment as food with these ingredients
While most products use allergen statements, not all do. That’s why even if there isn’t anything bolded you still need to read through the ingredients
Unacceptable ingredients/foods:
CURRENT DIET GUIDELINES
*Diet guidelines have changed over the years, based on research. For example, a few years ago, researchers tested the amount of galactose in aged cheeses and found that in some aged cheeses there was a very small amount and could be allowed. The Galactosemia Foundation website always has the current guidelines.
Acceptable in moderation:
That means ALL the work done (website, newsletter, fundraising, conference planning, FDA advocating, etc.…) is VOLUNTEER based.
That means ALL $150,000+ worth of research funded every two years is because of sponsors and donors. Every penny. That’s groundbreaking work on POI, diet, speech, life expectancy, long term outcomes, mechanisms of disease, white matter in the brain, etc.…
THIS IS WHY GLOW MATTERS- every single penny goes toward outreach and research… to help our community be stronger, wiser, better, brighter.
We are a small (only about 3,000 CG in the US) but we are MIGHTY.
Thank you for seeing us, believing in our dreams of future treatments and cure, and for recognizing that rare doesn’t mean un-important.
WHY WE GLOW TO SUPPORT THE GALACTOSEMIA FOUNDATION: 0%
More info about Galactosemia:
�More information about The Galacto Girls journey is available at:
MORE INFORMATION