Galactosemia is a rare genetic disorder that influences a body’s ability to metabolize galactose, a sugar in dairy products. Due to the rarity of the disease, the treatments and research for galactosemia are not well-known or definitively established, and we currently know very little about how to eliminate the disorder entirely. In this situation, how do people with galactosemia face and approach their disorder?
Diet
Managing one’s diet is the only suitable solution to prevent critical symptoms of galactosemia. Foods containing lactose and galactose—mainly dairy products—should be avoided. Specific categories of foods include:
- Butter
- Yogurt
- Cheese
- Cow’s milk
- Ice cream
- Casein
- Curds
- Whey and whey solids
Although it is our only answer, it is important to recognize that dietary changes are a limiting, risky, and temporary solution. Luckily, however, scientists are developing potential therapies and solutions to the disease, including:
GALT enzyme is a gene that provides instructions for making galactose-1-phosphate uridylyltransferase, an enzyme that enables the body to process galactose. Gene therapy or gene correction aims to compensate for the genetic defect permanently. Through the use of viral or non-viral vectors, patients can be given a new genetic sequence of a normal protein. Significant advances have been made in gene therapy.
mRNA therapy involves delivering mRNA into cells to assemble proteins that help treat diseases. By creating specific mRNA in a lab, scientists can deliver the mRNA into a body to produce a desired protein, which could treat a condition by replacing a missing or defective protein. Advances in technology have improved mRNA stability and the way it translates to make proteins in the body. Although promising, repeated dosing and potential immune responses are a disadvantage of the current development of mRNA therapy.
Pharmacological chaperones are small molecules designed to aid specific proteins that have trouble with intracellular folding, which is a crucial part of normal protein functioning. These chaperones help proteins fold correctly, maintain stability, and not deteriorate too quickly. In a disease like classic galactosemia, many mutations cause proteins to misfold. This makes pharmacological chaperones a potential solution, for they help these faulty proteins to function to their fullest potential. Using pharmacological chaperones, however, is a diverse spectrum of treatments. Everyone has different mutations of proteins, meaning that specific chaperones are required for specific galactosemia patients.