Posts Categorized: Treatment

Treatable IEM causing intellectual disability

Posted by & filed under Part 06: DIAGNOSTIC APPROACHES, Treatment, Websites.

Dr. van Karnebeek and Dr. Stockler performed a systematic literature review for treatable inborn errors of metabolism causing intellectual disability. Recommendations for investigation of genetic causes of intellectual disability are usually based on the frequencies of single conditions and the yield of diagnostic methods. The objective of this manuscript was to identify all currently treatable […]

Sapropterin and stability of blood phenylalanine in PKU

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

Variability in blood phenylalanine levels is inversely correlated with IQ and was recently shown to be a better predictor of IQ in early and continuously treated patients with PKU than mean blood phenylalanine levels. This study concludes that sapropterin results in increased stability of blood phenylalanine levels in BH4-responsive PKU. Sapropterin therapy increases stability of blood phenylalanine […]

Treatment of Wilson disease with NaPB

Posted by & filed under Part 14: METALS, Treatment.

Chaperones such as phenylbutyrate and curcumin can be used to treat conditions with misfolded proteins such as ATP7 in Wilson Disease. Hepatology. 2009 Dec;50(6):1783-95. Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin. van den Berghe PV, Stapelbroek JM, Krieger E, de Bie P, van de […]

MPS VI gene therapy pre-clinical model

Posted by & filed under Treatment, _.

Mol Genet Metab. 2009 Jun;97(2):102-8. Epub 2009 Feb 27. Lentiviral-mediated correction of MPS VI cells and gene transfer to joint tissues. Byers S, Rothe M, Lalic J, Koldej R, Anson DS. In this publication, the authors use a lentivirus to tranduce human fibroblasts and chondrocytes, as well as the synovial membrane and the fascia in […]

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 […]

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 […]

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. ( In this article, the authors […]

WORLD symposium abstracts

Posted by & filed under Meetings, Treatment.

The Lysosomal Disease Network’s 2006 WORLD Symposium was held at Disney World in Orlando, Florida (December 7–9, 2006). The 4th Symposium will be held on February 13–15, 2008, at the Venetian Hotel in Las Vegas, Nevada. Abstracts can be found in the December issue of Molecular Genetics and Metabolism Thank you very much in […]

Gene therapy to prevent immune response to enzyme replacement therapy

Posted by & filed under Part 16: LYSOSOMAL DISORDERS, Treatment.

Enhanced Response to Enzyme Replacement Therapy in Pompe Disease after the Induction of Immune Tolerance Baodong Sun, Andrew Bird, Sarah P. Young, Priya S. Kishnani, Y.-T. Chen, and Dwight D. Koeberl Am. J. Hum. Genet., 81:1042-1049, 2007 In this puplication, investigators from Duke University administered an AAV encoding alpha-glucosidase(GAA) to GAA-knockout mice. This prevented the […]

Enzyme replacement therapy in ectodermal dysplasia

Posted by & filed under Part 22: CONNECTIVE TISSUE, Treatment.

Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia Margret L. Casal, John R. Lewis, Elizabeth A. Mauldin, Aubry Tardivel, Karine Ingold, Manuel Favre, Fabrice Paradies,* Ste´phane Demotz, Olivier Gaide, and Pascal Schneider The American Journal of Human Genetics, volume 81 (2007) This paper describes the application of […]