Hostname: page-component-745bb68f8f-grxwn Total loading time: 0 Render date: 2025-01-22T11:48:58.907Z Has data issue: false hasContentIssue false
  • English
  • Français

Treating Intellectual Disability; Look for Creatine Peaks in the Brain

Published online by Cambridge University Press:  18 February 2016

Asuri N. Prasad
Asuri N. Prasad*
Affiliation:
Schulich School of Medicine and Dentistry University of Western Ontario, Londony Ontario, Canada
Rights & Permissions [Opens in a new window]

Abstract

An abstract is not available for this content so a preview has been provided. As you have access to this content, a full PDF is available via the ‘Save PDF’ action button.
Image of the first page of this content. For PDF version, please use the ‘Save PDF’ preceeding this image.'
Type
Editorial
Information
Canadian Journal of Neurological Sciences , Volume 38 , Issue 5 , September 2011 , pp. 669 - 670
Copyright
Copyright © Canadian Neurological Sciences Federation 2011

References

1.McLaren, J, Bryson, SE. Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology. Am J Ment Retard. 1987;92:243–54.Google ScholarPubMed
2.Rauch, A, Hoyer, J, Guth, S, et al. Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A. 2006;140:2063–74.CrossRefGoogle ScholarPubMed
3.Levy, HL. Nutritional therapy for selected inborn errors of metabolism. J Am Coll Nutr. 1989;8 Suppl:54S–60.Google ScholarPubMed
4.Hinnell, C, Samuel, M, Alkufri, F, et al. Creatine deficiency syndromes: diagnostic pearls and pitfalls. Can J Neurol Sci. 2011;38(5):765–7.CrossRefGoogle ScholarPubMed
5.Stockler, S, Holzbach, U, Hanefeld, F, et al. Creatine deficiency in the brain: a new, treatable inborn error of metabolism. Pediatr Res. 1994;36:409–13.CrossRefGoogle Scholar
6.Schulze, A. Creatine deficiency syndromes. Mol Cell Biochem. 2003;244:143–50.CrossRefGoogle ScholarPubMed
7.Lion-Francois, L, Cheillan, D, Pitelet, G, et al. High frequency of creatine deficiency syndromes in patients with unexplained mental retardation. Neurology. 2006;67:1713–14.CrossRefGoogle ScholarPubMed
8.Stockler, S, Schutz, PW, Salomons, GS. Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology. Subcell Biochem. 2007;46:149–66.CrossRefGoogle ScholarPubMed
9.Novotny, E, Ashwal, S, Shevell, M. Proton magnetic resonance spectroscopy: an emerging technology in pediatric neurology research. Pediatr Res. 1998;44:1–10.CrossRefGoogle ScholarPubMed
10.Mercimek-Mahmutoglu, S, Stockler-Ipsiroglu, S. Creatine deficiency syndromes. In: Pagon, RA, Bird, TD, Dolan, CR, Stephens, K, editors. Gene reviews. Seattle (WA): 1993.Google Scholar
11.Bodamer, OA, Iqbal, F, Muhl, A, et al. Low creatinine: the diagnostic clue for a treatable neurologic disorder. Neurology. 2009;72: 854–5.CrossRefGoogle ScholarPubMed
12.Schulze, A, Battini, R. Pre-symptomatic treatment of creatine biosynthesis defects. Subcell Biochem. 2007;46:167–81.CrossRefGoogle ScholarPubMed
13.Mercimek-Mahmutoglu, S, Stoeckler-Ipsiroglu, S, Adami, A, et al. GAMT deficiency: features, treatment, and outcome in an inborn error of creatine synthesis. Neurology. 2006;67:480–4.CrossRefGoogle Scholar
14.Mercimek-Mahmutoglu, S, Connolly, MB, Poskitt, KJ, et al. Treatment of intractable epilepsy in a female with SLC6A8 deficiency. Mol Genet Metab. 2010;101:409–12.CrossRefGoogle Scholar
15.Ross, BD, Kaye, EM. Creatin' news. Neurology. 1999;53:249–50.CrossRefGoogle ScholarPubMed