Posts By: pcampeau

Metabolomics for IEMs

Posted by & filed under Part 03: GENERAL THEMES.

Clin Chem. 2007 Dec;53(12):2169-76. Epub 2007 Oct 19. Metabolomics identifies perturbations in human disorders of propionate metabolism. Wikoff WR, Gangoiti JA, Barshop BA, Siuzdak G. In this publications, the authors use mass-based metabolomics to identify compounds which differ from normal individuals in the plasma of patients with methylmalonic aciduria and propionic aciduria. Not surprinsingly, propionylcarnitine […]

ACMG meeting

Posted by & filed under Meetings.

ACMG Annual Clinical Genetics Meeting March 12-16, 2008 Phoenix Convention Center & Hyatt Regency Phoenix Phoenix, Arizona Philippe

Congenital anomalies in a patient with beta-Ureidopropionase deficiency

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Mol Genet Metab. 2008 Feb;93(2):190-194. Epub 2007 Oct 26. beta-Ureidopropionase deficiency presenting with congenital anomalies of the urogenital and colorectal systems. Yaplito-Lee J, Pitt J, Meijer J, Zoetekouw L, Meinsma R, van Kuilenburg AB.   In this article, the authors describe dysmorphisms associated with an inborn error of metabolism of thymine and uracil degradation. The […]

HuGE Navigator

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For information on population prevalence of genetic variants, gene-disease associations, gene-gene and gene- environment interactions, and evaluation of genetic tests, please look at the HuGE Navigator (http://www.hugenavigator.net/).   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 […]

Hemochromatosis penetrance

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This week, the New England Journal of Medicine publishes a study on the penetrance of HFE hereditary hemochromatosis. 31 000 individuals were studied in Australia. There were 203 C282Y homozygotes. Of these, 28% of the males and 1% of the females developed iron-overload-related diseases. Read more at: Iron-Overload–Related Disease in HFE Hereditary Hemochromatosis KJ Allen, […]

Human variome Project

Posted by & filed under Websites.

  ASHG 2007 To see the presentations given October 25th at ASHG 2007 (San Diego), go to the HVP website http://www.humanvariomeproject.org/ and click on the link at the bottom of the page. To see how microattribution of credit could eventually be given in mutation databases, look at this Nature Genetics editorial: Human Variome Microattribution Reviews […]

Reversion of white matter changes with treatment of HMG-CoA lyase deficiency.

Posted by & filed under Part 09: ORGANIC ACIDS, Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION, Treatment.

Pediatr Neurol. 2007 Jul;37(1):47-50. 3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white matter changes after treatment. Zafeiriou DI, Vargiami E, Mayapetek E, Augoustidou-Savvopoulou P, Mitchell GA.   In this paper, the authors describe a patient with HMG-CoA Lyase deficiency. He initially presented at 8 months with seizures during a gastroenteritis; he had hepatomegaly and elevated […]

Mouse model for mucolipidosis II.

Posted by & filed under Part 16: LYSOSOMAL DISORDERS.

  Invest Ophthalmol Vis Sci. 2007 Nov;48(11):5221-8. Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions. Gelfman CM, Vogel P, Issa TM, Turner CA, Lee WS, Kornfeld S, Rice DS. In this paper, the authors describe a mouse model for mucolipidosis II. The mice have severe retinal degeneration, in […]

Antioxidants in tyrosinemia type 1

Posted by & filed under Part 08: AMINO ACIDS, Treatment.

Chantale Langlois, Rossana Jorquera, Diana Orejuela, Anne Bergeron, Milton J. Finegold, William J. Rhead and Robert M. Tanguay, Rescue from neonatal death in the murine model of hereditary tyrosinemia by glutathione monoethylester and vitamin C treatment, Molecular Genetics and MetabolismIn Press, Corrected Proof, , Available online 26 November 2007. (http://www.sciencedirect.com/science/article/B6WNG-4R70K78-2/2/86c9b26444612b49174abacbbe922884) In this article, the authors […]

New OMMBID interface

Posted by & filed under Tools, Websites.

Have a look at the new and improved interface of The Online Metabolic and Molecular Bases of Inherited Diseases. http://genetics.accessmedicine.com/ Full table of contents 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 […]