Researchers surveyed 39 nutrition experts from around the world who treat patients with galactosaemia, a rare genetic condition that makes it hard for the body to process a natural sugar called galactose. The study found that new international guidelines published in 2017 have helped these experts feel more confident in their treatment decisions and have changed how they manage the condition. Most experts reported making their treatment plans less strict, allowing patients to eat more fruits and vegetables. However, doctors say there’s still room for improvement in how these guidelines are used and shared with patients.

The Quick Take

  • What they studied: Whether nutrition experts around the world are using new treatment guidelines for galactosaemia and how helpful they find them
  • Who participated: 39 registered nutrition experts from 17 different countries who have worked with galactosaemia patients. More than half had over 10 years of experience treating this condition
  • Key finding: Since the new guidelines came out in 2017, over half of the nutrition experts changed how they treat the condition, mostly by making diets less restrictive and allowing patients to eat more fruits and vegetables. About 77% of experts said the guidelines made them feel more confident in their treatment decisions
  • What it means for you: If you or a family member has galactosaemia, your doctor may be using updated treatment approaches that are less restrictive than older methods. This suggests patients may have more food choices while still managing their condition safely, though you should always follow your specific doctor’s recommendations

The Research Details

Researchers created an online survey and sent it to nutrition experts who treat galactosaemia patients between April and June 2021. The survey asked these experts about their experiences using the new international guidelines that were published in 2017. The study included 39 nutrition experts from 17 countries around the world. The researchers analyzed the survey responses by counting how many people gave similar answers and by looking for common themes in what people wrote.

This type of study is called a ‘cross-sectional survey,’ which means researchers took a snapshot of people’s opinions and practices at one point in time. It’s like taking a photo rather than watching a video—it shows what was happening during that specific period but doesn’t track changes over time.

Understanding how nutrition experts are using new guidelines is important because it shows whether the guidelines are actually helping doctors treat patients better. This research is one of the first times anyone has asked experts directly about their experiences with these specific galactosaemia guidelines. By learning what’s working and what’s not, researchers can improve future guidelines and make sure patients get the best possible care.

This study has some strengths and some limitations. The strength is that it includes experts from many different countries, which gives a global perspective. However, the study only included 39 experts, which is a relatively small number. The study was done in 2021, so some information might be slightly outdated. The researchers did get approval from an ethics board, which means the study followed proper safety and ethical standards. The survey was tested before being sent out to make sure the questions were clear.

What the Results Show

More than half (56.4%) of the nutrition experts reported that they changed how they treat galactosaemia patients after the new guidelines came out. The most common change was making the diet less strict—specifically, 46% of experts said they stopped restricting fruits and vegetables as much as they used to.

About 77% of the experts said the guidelines made them feel more confident in their treatment decisions. They explained that the guidelines helped support the way they were already treating patients and gave them scientific evidence to back up their choices.

However, 82% of the experts also said there are ways the guidelines could be improved. They mentioned that there are still gaps in the scientific evidence and that there are barriers to using the guidelines, such as lack of resources, patient-related challenges, and institutional obstacles.

The study found that experts with more experience (over 10 years) made up 51% of the survey participants. This suggests that the survey captured perspectives from very experienced professionals. The experts also highlighted that patients need better, easier-to-understand resources about managing galactosaemia. Currently, most information is written for doctors and nutrition experts, not for patients and families who actually need to follow the treatment plans.

Before 2017, different countries used different approaches to treat galactosaemia because there were no worldwide standard guidelines. This study is the first to examine how the new international guidelines are actually being used in practice. The findings suggest that the guidelines have successfully influenced how experts treat the condition, which is a positive sign that creating standardized guidelines can improve patient care.

The study only included 39 experts, which is a small number, so the results may not represent all nutrition experts worldwide. The survey was done in 2021, so practices may have changed since then. The study only asked experts about their perspectives—it didn’t directly measure whether patients actually had better health outcomes. Additionally, the study didn’t include information about how many patients each expert treats or how severe their cases are, which could affect treatment approaches.

The Bottom Line

If you have galactosaemia or care for someone who does, talk with your nutrition expert about the current treatment guidelines. The evidence suggests that newer approaches may allow for a less restrictive diet while still managing the condition safely. Ask your doctor specifically about whether you can include more fruits and vegetables in your diet. (Confidence level: Moderate—based on expert opinions rather than direct patient outcome studies)

This research is most relevant for people with classical galactosaemia and their families, as well as doctors and nutrition experts who treat this condition. If you have a different type of galactosaemia or don’t have the condition, this research is less directly applicable to you. Healthcare systems and policy makers should also pay attention to this research, as it shows that better resources and support are needed to help experts implement the guidelines.

Changes in diet and treatment approaches can take several weeks to months to show benefits. You may notice improvements in how you feel and your energy levels within a few weeks of dietary changes, but some health markers may take longer to improve. Always work closely with your healthcare team to monitor your progress.

Want to Apply This Research?

  • Track daily food intake and energy levels. Log which fruits and vegetables you eat each day, along with how you feel (energy, digestion, overall wellness) on a scale of 1-10. This helps you and your doctor see if the less restrictive diet is working well for you
  • Work with your nutrition expert to gradually introduce more fruits and vegetables into your diet if your current plan is very restrictive. Use the app to plan meals that include these foods and track how you tolerate them
  • Set up weekly check-ins to review your food log and symptom tracking. Share this data with your healthcare team at regular appointments to ensure the dietary changes are safe and beneficial for your specific situation

This research describes how nutrition experts view and use treatment guidelines for galactosaemia. It does not provide medical advice or treatment recommendations for individual patients. If you or a family member has galactosaemia, please consult with your healthcare provider or a registered dietitian who specializes in this condition before making any changes to your diet or treatment plan. The findings are based on expert opinions and may not apply to all patients or all situations. Always follow your doctor’s specific recommendations for your individual case.