Tag Archive: VDDR

Oct 3 2018

Bone and Mineral Research Award Celebrates Career of Michael A. Levine, MD


For Michael A. Levine, MD, a pediatric endocrinologist, scientist, and fixture in the bone and mineral research community for nearly four decades, few things are a greater source of pride than to be honored by one’s own peers. The medical director of the Center for Bone Health at Children’s Hospital of Philadelphia and chief emeritus of the hospital’s Division of Endocrinology and Diabetes, was recognized Sept. 29 by the American Society of Bone and Mineral Research (ASBMR) — an organization he describes fondly as his “home society” — with the 2018 Frederic C. Bartter Award.

Read the rest of this entry >>

Mar 6 2018

Is an Uncommon Genetic Mutation Linked to Vitamin D-dependent Rickets?

The Findings:

Researchers identified a genetic mutation in CYP3A4 that is linked to vitamin D-dependent rickets (VDDR), a childhood disorder associated with impaired growth and skeletal mineralization. Scientists already knew about two other genetic forms of VDDR, but this third kind is caused by a gain-in-function mutation — a random genetic change that confers a new function on a gene — that leads to accelerated inactivation of vitamin D metabolites. This is a new insight into vitamin D metabolism.

Read the rest of this entry >>