glucose-galactose malabsorption

• By MarcieW
• Posted May 9, 2009 at 10:31 pm
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My son was diagnosed with this at 3 months old. We are trying to learn as much as we can. What kinds of symptoms does your daughter have?

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• By Glu_Gal
• Posted May 26, 2009 at 8:48 pm
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My son is 9yr and was diagnosed as a baby. I'm also after more info especially recipes, foods and any other issues with the condition.

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• By foreverinbluejeans
• Posted May 27, 2009 at 10:06 pm
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Is your baby breastfeeding? What kind of problems is she having? Have you tried eliminating any foods from your diet? What kind of doctor told you your baby my have this very rare condition?

I found the following info on a genetic web site.

"What is glucose-galactose malabsorption?
Glucose-galactose malabsorption is a condition in which the cells lining the intestine cannot take in the sugars glucose and galactose, which prevents proper digestion of these molecules and larger molecules made from them.

Glucose and galactose are called simple sugars, or monosaccharides. Sucrose (table sugar) and lactose (the sugar found in milk) are called disaccharides because they are made from two simple sugars, and are broken down into these simple sugars during digestion. Sucrose is broken down into glucose and another simple sugar called fructose, and lactose is broken down into glucose and galactose. As a result, lactose, sucrose and other compounds made from sugar molecules (carbohydrates) cannot be digested by individuals with glucose-galactose malabsorption.

Glucose-galactose malabsorption generally becomes apparent in the first few weeks of a baby's life. Affected infants experience severe diarrhea resulting in life-threatening dehydration, increased acidity of the blood and tissues (acidosis), and weight loss when fed breast milk or regular infant formulas. However, they are able to digest fructose-based formulas that do not contain glucose or galactose. Some affected children are better able to tolerate glucose and galactose as they get older.

Small amounts of glucose in the urine (mild glucosuria) may occur intermittently in this disorder. Affected individuals may also develop kidney stones or more widespread deposits of calcium within the kidneys.

How common is glucose-galactose malabsorption?
Glucose-galactose malabsorption is a rare disorder; only a few hundred cases have been identified worldwide."

There are mutations in the SLC5A1 gene and both parents have to have a bad gene (autosomal recessive). Since there have only been a few hundred cases in the world ever it would be amazing if there are 3 cases on this site.

If your baby does have this genetic disorder she will have to have the special formula. The formula will be lacking factors for brain development, the most important developmental task for the first year. You may want to go to physical and occupational therapy to try to make up for the loss. It could be more than 10 IQ points.

Your baby may be at risk for failure to thrive. That may mean your baby has to have hospitalizations, a lot of doctor's visits, weight checks, referral to special clinics, feeding tubes.

I couldn't find out any info on how much fructose formula costs. The World Health Organization recommends that there be no fructose in formula because 1 in 20,000 babies in some populations have a hereditary fructose malabsorption disease that can be fatal.

The other two people with kids with this condition, how did your kids survive the first year? How did you get fructose formula? How much did it cost? Do your children have developmental delays or low IQ? Did your family have genetic testing?

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• By MarcieW
• Posted May 27, 2009 at 10:21 pm
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Can you tell me what kinds of things your son can eat?

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• By Glu_Gal
• Posted May 28, 2009 at 12:17 am
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He has bacon and egg and fried tomato for breaky with some yogurt made from RCF and frozen culture with fructose or pureed pear or both and a cocoa and fructose hot milk (RCF). He's at the stage where I'm adding some normal soy milk and he seems ok with that and it make a much better yogurt. For lunch and morning tea he'll take avocado, cheese, salad, tuna, or chicken or meat burgers, occasional popcorn, a pear and sometimes left over dinners, some yogurt or diet jelly. Plus some RCF milk. Afternoon tea will vary - nuts (almonds are better) some beef jerky, left over dinner, milk. Thats probably the worst time to try and find a quick snack. Dinner will just be meat and vegie (caulie, broc, brussel sprouts, cabbage, small amt carrot, beans)and he's doing alright with a bit of rice. Dessert is usually custard, either made form egg or custard powder depending on what day he's having. I also make his ice cream using egg yolk and a gelatine and sugar mix with his milk. Pretty much thats his diet everyday. We didn't follow his diet very well for the last couple of years - had well intended advice telling me that he needs to put on weight and bulking up and I always worried what the lack of carbs do to brain and body development. He suffered without complaint ever from gut problems, soiling, bed wetting and poor control of bowels and excessive thirst for the last few years so don't ever do what I did and not think that just because its diarreah that its not important. I'm very strict with it now but he is able to tolerate small carb intake so its getting better but not with the galactose. Anyway hope it helps.

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• By eininsdad11
• Posted July 28, 2009 at 2:53 pm
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To foreverinbluejeans
What is your experience with Glucose-Galactose Malabsorbption? You seem quite negative in your post! Our daughter IS thriving, she has no more doctors appointments than any other child with diet issues eg. her last appointment was mid May and her next one is mid August. She IS reaching all her developmental milestones and does NOT need physio, OT, referal to specialist clinics or feeding tubes. Whats more, we have a wonderful consultant peadiatrician and dietitian who are very supportive.
We are not 'Wonderparents', we just try to do the best we can for our daughter by sticking to her diet with the help of very caring family and professionals.

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• By JennM4
• Posted October 20, 2009 at 4:27 pm
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I hope all is well with your daughter. My 15 yr. old nephew was diagnosed with Glucose-galactose malabsorption when he was about 7 weeks old, after spending 6 weeks in the PICU. He was placed on this formula called T32 and we added fructose to it. He really did thrive on it, and even though he needed some physical therapy early on, you would never know it now. He plays highschool football and is just an amazing kid. He's bright and intelligent and is just like any other teenager his age, though he still struggles with some malabsorption and there are many things he can't eat. He does eat a lot of protein and fruit and does well on it.

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