MACPAD
48 Mann St
Cheektowaga NY 14206
Phone:  716-725-3212

Research Fund 2003

Research Fund 2003 

Dr. Barbara Burton, Children's Memorial Hospital in Chicago, IL.

In 2003, the MACPAD Board of Directors granted $8000.00 to Dr. Barbara Burton of the Children's Memorial Hospital in Chicago, IL. Dr. Burton has been studying BH4 responsiveness. She has been studying 23 patients and hopes to enlarge the study to 50 patients. Of the 23 that have been studied so far, 3 have been found to be BH4 responsive while 20 have been non-responsive. The 3 responsive subjects include two with atypical PKU and one with classical PKU. She feels it is extremely important to study larger numbers of subjects with both types of PKU. In several patients reported in the literature, treatment with BH4 has allowed complete discontinuation of the protein restricted diet. In others, significant relaxation of the diet has been permitted. BH4, tetrahydrobiopterin, is a vitamin-like substance that is a cofactor for the enzyme phenylalanine hydroxylase, which converts phenylalanine to tyrosine. There is very strong interest among patients with PKU for any treatment for this disorder that might permit some relaxation of dietary restrictions or result in better control of plasma phenylalanine levels and improved outcome.

 

Dr. Heng Wang ,Das Deutsch Center for Special Needs Children

The MACPAD Board of Directors awarded $12,500 to Dr. Heng Wang of the DDC Clinic for Special Needs Children in Middlefield, OH. Dr. Wang's study is aimed at identifying "protective" factors-genetic, biochemical, or environmental- that allow one individual with PKU to tolerate more phenylalanine in his diet than someone else with the same genetic mutation. What allows two brothers who both have PKU and both have the same genetic mutation causing their PKU to have significantly different phenylalanine tolerences? Dr. Wang suggests that the answer to this question is very important not only because we will have a better understanding of the disease, but we also may be able to apply this information to help other PKU patients achieve better blood phenylalnine control or have more dietary freedom. The study will focus on 15 PKU patients with the same mutation. Their phenylalanine tolerances will be determined. Then through a detailed study of the patient's medical history, a careful and complete interview of parents, and a systematic analysis of the results, Dr. Wang will attempt to identify any protective factors.