What is galactosemia?

Milk sugar is called lactose.

Lactose is digested by the enzyme lactase, forming the the sugars glucose and galactose.

Lactose intolerance is the inability to break down lactose. This causes digestive problems, but is not dangerous to health.

Galactosemia is the inability to metabolize galactose. This results in toxic levels that cause serious damage to the kidneys and brain among other tissues. Avoiding milk products is critical, but not enough to prevent metabolic damage.

In galactosemia patients, one or more enzymes are not working properly because they are in the wrong shape. Some of my colleagues had done previous research in which adding the amino acid arginine to the enzymes helped the enzymes maintain their proper function (in a cell study).

In this new study, we supplemented galactosemia patients with arginine for a month.

Unfortunately, we found no positive effects in this human study. But it’s another important step in better understanding galactosemia and how to fix it.

PS: No need to wonder if you have galactosemia when reading this. It’s such a serious condition that it can’t go unnoticed.

Our study:
Haskovic M et al. Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. Orphanet J Rare Dis. 2018.

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