Brendan Lee, M.D., Ph.D., Professor, Department of Molecular and Human Genetics, Baylor College of Medicine Over the past few years, we have tried to translate our experience in treating urea cycle disorders to developing new applications for maple syrup urine disease.
Sodium phenylbutyrate is a medication that has been routinely used to treat urea cycle disorders. We have observed that this medication can lower branched chain amino acids. While this side effect is important for its use in urea cycle disorders, we wanted to test whether it may be useful in lowering branched chain amino acids in MSUD.
In our preliminary studies in patients with MSUD, skin cells from patients with MSUD, and mice, we have discovered that phenylbutyrate may indeed be useful in lowering branched chain amino acids in at least some cases of MSUD. However, it is still too early to recommend its wide spread use.
We are planning to perform a definitive clinical trial to test the effectiveness of phenylbutyrate in MSUD, and to determine whether we can develop tools to screen for patients who might respond to its use. We don’t expect that this treatment can cure MSUD. Instead, we hope that it may be a useful treatment in combination with standard dietary therapy. Together we hope that this may decrease frequency and severity of illnesses as well as enable relaxation of dietary restriction.
Development of new treatment for some forms of Maple Syrup Urine Disease
- Category: Volume 27-1