Four patients from 2 different families were identified with a new inborn error of metabolism: a defect in the biosynthesis of Dolichol Phosphate.

Frequent features include ichtyosis, hypotonia and dilated cardiomyopathy. Transferin isoelectri

c focusing was abnormal.

For more details, see the article and website:

A Defect in Dolichol Phosphate Biosynthesis Causes a New Inherited Disorder with Death in Early Infancy

Christian Kranz, Christoph Jungeblut, Jonas Denecke, Anne Erlekotte, Christina Sohlbach, Volker Debus, Hans Gerd Kehl, Erik Harms, Anna Reith, Sonja Reichel, Helfried Gröbe, Gerhard Hammersen, Ulrich Schwarzer, and Thorsten Marquardt

The American Journal of Human Genetics, volume 80, March 2007

Website with movie.

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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator