Posts Categorized: New IEM

Isocitrate dehydrogenase

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IDH2, encoding mitochondrial isocitrate dehydrogenase 2 has been shown last year to be mutated in various tumors, providing a new link between intermediary metabolism and cancer. This prompted Martijn Kranendijk et al. to study this gene in patients with D-2-Hydroxyglutaric Aciduria. While some are asymptomatic, others have developmental delay, epilepsy, hypotonia, cardiomyopathy and dysmorphic features.  […]

New IEMs

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Two new mitochondrial diseases have been described: an encephalomyopathy caused by mutations in C12orf65 leading to a mitochondrial translation defect (Antonicka et al., 2010, Am J Hum Genet 87:115-22). The mutated protein is thought to help tRNA processing during mitochondrial protein elongation. Also, mutations in the X-linked AIFM1 gene, encoding the protein Apoptosis-Inducing Factor Mitochondrion-associated […]

Renal Fanconi with mutations in NaPi-IIa

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A renal Fanconi syndrome has been described with mutations in NaPi-IIa causing impared renal phosphate reabsorption Magen D, Berger L, Coady MJ, Ilivitzki A, Militianu D, Tieder M, et al. A loss-of-function mutation in NaPi-IIa and renal Fanconi’s syndrome. [Internet]. The New England journal of medicine. 2010 ;362(12):1102-9.Available from: Philippe Campeau Baylor College of […]

New Krebs cycle defect

Posted by & filed under New IEM, Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION.

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 […]

New IEM: Dolichol Phosphate Synthesis defect

Posted by & filed under New IEM, Part 07: CARBOHYDRATES, Websites.

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 buy viagra online in canada c focusing was abnormal. For more details, see the article and website: A Defect in Dolichol Phosphate […]