Posts By: pcampeau

Deletions in OTC

Posted by & filed under Part 08: AMINO ACIDS.

Mol Genet Metab. 2009 Mar;96(3):97-105. Epub 2009 Jan 12. High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH. Shchelochkov OA, Li FY, Geraghty MT, Gallagher RC, Van Hove JL, Lichter-Konecki U, Fernhoff PM, Copeland S, Reimschisel T, Cederbaum S, Lee B, Chinault AC, Wong  LJ. http://www.ncbi.nlm.nih.gov/pubmed/19138872 This […]

ICIEM

Posted by & filed under Meetings.

The 11th International Congress on Inborn Errors of Metabolism hosted by the Society of Inherited Metabolic Disorders (SIMD) August 29th – September 02, 2009 San Diego, California, USA at the Manchester Grand Hyatt Hotel. www.iciem2009.org see you there! Philippe campeau

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 […]

ICIEM next meeting

Posted by & filed under Meetings.

11th International Congress of Inborn Errors of Metabolism (ICIEM), San Diego, California, USA. August 29 – Sept 2, 2009 Check out: http://www.iciem2009.org

UCD cross-sectional study in the US

Posted by & filed under Part 08: AMINO ACIDS.

This study performed by 8 US sites included 183 patients. The data was obtained by interviews, physical examinations, neuropsychological testing and laboratory analyses. OTC deficiency was the most frequent condition. 39% of all patients had intellectual and developmental disabilities. For more details on this very useful cross-sectional study, please refer to: Mol Genet Metab. 2008 […]

Mefolinate (5-methyltetrahydrofolate) as a treatment of severe MTHFR deficiency

Posted by & filed under Part 17: VITAMINS, Treatment.

Li, D. et al. Mefolinate (5-methyltetrahydrofolate), but not folic acid, decreases mortality in an animal model of severe methylenetetrahydrofolate reductase deficiency. Journal of Inherited Metabolic Disease Volume 31, Number 3 / June, 2008 In a mouse model of severe MTHFR deficiency, Mefolinate administration to the mother improved survival and cerebellar morphology in the pups. This […]

Transaldolase deficiency

Posted by & filed under Part 07: CARBOHYDRATES.

Mol Genet Metab. 2008 Jun;94(2):255-8. Epub 2008 Mar 10. Transaldolase deficiency in a two-year-old boy with cirrhosis. Wamelink MM, Struys EA, Salomons GS, Fowler D, Jakobs C, Clayton PT. In this brief communication, the authors describe a new patient with transaldolase deficiency, with hematological, renal and hepatic manifestations. They also review previously reported cases of […]

Involvement of Bardet-Biedl proteins in neural crest cell migration

Posted by & filed under Part 30: MULTISYSTEM INBORN ERRORS OF DEVELOPMENT.

Proc Natl Acad Sci U S A. 2008 Apr 28 [Epub ahead of print] Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung’s disease in Bardet-Biedl syndrome. Tobin JL, Di Franco M, Eichers E, May-Simera H, Garcia M, Yan J, Quinlan R, Justice MJ, Hennekam RC, Briscoe J, Tada M, Mayor R, Burns AJ, […]

Another gene involved in ubiquinone deficiency

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

Am J Hum Genet. 2008 Mar;82(3):623-30. CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N, Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rötig A. Investigators rom Paris have studied patients with CoQ10 deficiency from three families […]

SSIEM 2008 meeting

Posted by & filed under Meetings.

Registration for the September 2008 SSIEM meeting in Lisboa Portugal, is now open. http://www.ssiem2008.com Thank you very much in advance for your contributions to this blog (Click on login to register and post a comment). Click this link to see the most recent online abstracts of major genetics journals. Philippe Campeau, MD Resident in Medical […]