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Author Topic:   Mevalonate Kinase Deficiency Research
posted 09-08-2005 08:53 PM     Click Here to See the Profile for smithb@ohsu.edu   Click Here to Email smithb@ohsu.edu     Edit/Delete Message Reply w/Quote
Dear Colleague,

Oregon Health & Science University (Portland, Oregon USA) is conducting research on mevalonic aciduria mevalonate kinase deficiency and hyper-IgD with periodic fever syndrome (HIDS).

The objective of the study “Dietary Cholesterol and Defects in Cholesterol Synthesis in Mevalonate Kinase Deficiency (MKD),” is to characterize the metabolic and phenotypic consequences of MKD and study the effects of altering dietary cholesterol in MKD. We hypothesize that some of the phenotypic effects of MKD are due to altered cholesterol metabolism, but that the phenotype is predominantly due to derangements in isoprenoid metabolism.

The study is open to all ages. Please contact study coordinator Jennifer Penfield, MS, PA-C, at 1 (503) 494-7944 in the Department of Pediatrics, and/or email penfield@ohsu.edu.


Robert D. Steiner, MD
Associate Professor
Departments of Pediatrics and Molecular and Medical Genetics
Head--Division of Metabolism
Oregon Health & Science University
Portland, Oregon USA


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