Abstracts
Why doesn't the usual treatment of a vitamin pill help babies with the L216R mutation of the disease Multiple Carboxylase Deficiency?
Lisa Bailey
PhD student, Discipline of Biochemistry, University of Adelaide
Supervised through Molecular and Biomedical Science, University of Adelaide
The vitamin biotin, also known as vitamin B7 or vitamin H, is a critical vitamin required for correct metabolism of fats and sugars. The enzyme Holocarboxylase Synthetase, or HCS, is a key protein which regulates biotin metabolism. Mutations in this enzyme lead to the disease Multiple Carboxylase Deficiency, which is usually very successfully and easily treated by giving the patients a biotin tablet. However, there are some particular mutations which result in a form of the disease which is not treatable, and is associated with high infant mortality. In this study we examined why this mutation is particularly dangerous and found that it is due to the mutation causing the enzyme to become much more unstable compared to the normal version of the enzyme.
