New Krebs cycle defect

• October 6th, 2008

Nat Genet. 2008 Oct;40(10):1230-4. Epub 2008 Sep 21.

Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle.

Hartong DT, Dange M, McGee TL, Berson EL, Dryja TP, Colman RF.

We still have things to learn about the Krebs cycle….
Indeed, by studying families with Retinitis Pigmentosa, Hartong and colleagues identified individuals with functional defects in NAD-specific isocitrate dehydrogenase.
What is surprinsing is that these individuals do not have a generalized mitochondrial syndrome with encephalopathy (seen in homozygotes with defects of other enzymes of the krebs cycle) but the only affected organ is the retina. It is believed that elsewhere in the body, NADP-specific isocitrate dehydrogenase catalyzes the oxidation of isocitrate to alpha-ketoglutarate.

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

New IEM: Dolichol Phosphate Synthesis defect

• February 2nd, 2007

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 isoelectric 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