Study: Disease Modifying Therapies Needed for Maple Syrup Urine Disease

According to a story from Medical Xpress, a recent study that draws on 30 years of maple syrup urine disease patient data has concluded that while significant improvements have been made in the treatment of this disease, there is still a dire need for disease-modifying treatments as the illness is still potentially lethal. The study tracked data from 184 maple syrup urine disease patients and followed their course of treatment.

About Maple Syrup Urine Disease

Maple syrup urine disease is a type of genetic, metabolic disorder which is characterized by a buildup of amino acids. The disease’s name comes from the smell of an affected person’s urine, which often is one of the first notable signs of the disorder. There are a number of genetic mutations that can cause the illness. These typically affect DLT, DBT, BCKDHA, or BCKDHB genes. There are late onset and early onset forms of maple syrup urine disease. The early onset form can be lethal in a matter of months if left untreated. Symptoms include brain damage, a maple syrup-like smell of urine and ear wax during metabolic crises, hallucinations, weight loss, coma, pancreatitis, spasms, muscle weakness, ataxia, seizures, anorexia, vomiting, diarrhea, and anemia. Treatment involves strict dietary control to reduce amino acid intake. A liver transplant can relieve most symptoms. To learn more about maple syrup urine disease, click here.

About the Study

The study represents that largest systematic study ever conducted in this disease. A diverse array of patient characteristics were monitored, such as cognitive outcomes, overall survival, metabolic crises, rates of hospitalization, and liver transplants. In the past, a third of patients died from complications by age ten. Recent decades have seen the figure greatly improve. 

Diet management is one of the principal methods of controlling maple syrup urine disease. The researchers learned that while this method is effective for keeping amino acids within an acceptable range, it doesn’t prevent patients from experiencing harmful cognitive and psychiatric impairments. 82 of the subjects in the study underwent IQ testing and patients scored 23 percent lower on average when compared to unaffected people. Higher scores were linked to younger patients, suggesting that the illness can cause IQ declines over time.

The scientists conclude by saying that gene therapy could be a way forward in improving outcomes for patients.

Check out the original study, published in the journal Molecular Genetics and Metabolism, here.

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