Pediatric Neurology
Volume 42, Issue 3 , Pages 223-226 , March 2010

Mucolipidosis Type IV: A Subtle Pediatric Neurodegenerative Disorder

  • Joseph S. Geer, MD

      Affiliations

    • Greenwood Genetic Center, Greenwood, South Carolina
    • ,
  • Steve A. Skinner, MD

      Affiliations

    • Greenwood Genetic Center, Greenwood, South Carolina
    • ,
  • Ehud Goldin, PhD

      Affiliations

    • Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland
    • ,
  • Kenton R. Holden, MD

      Affiliations

    • Greenwood Genetic Center, Greenwood, South Carolina
    • Departments of Neurosciences and Pediatrics, Medical University of South Carolina, Charleston, South Carolina
    • Corresponding Author InformationCommunications should be addressed to: Dr. Holden; Greenwood Genetic Center; Mt. Pleasant Office; P.O. Box 1047; Mt. Pleasant, SC 29465-1047.

Received 18 May 2009 ,Accepted 12 October 2009.

References 

  1. Hantash FM, Olson SC, Anderson B, et al. Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population. J Mol Diagn. 2006;8:282–287
  2. Bach G, Webb MBT, Bargal R, Zeigler M, Ekstein J. The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of three novel MCOLN1 mutations. Hum Mutat. 2005;26:591
  3. Bindu PS, Gayathri N, Yasha TC, et al. A variant form of mucolipidosis IV: report on 4 patients from the Indian subcontinent. J Child Neurol. 2008;23:1443–1446
  4. Schiffmann R, Dwyer NK, Lubensky IA, et al. Constitutive achlorhydria and mucolipidosis type IV. Proc Natl Acad Sci U S A. 1998;95:1207–1212
  5. Frei KP, Patronas NJ, Crutchfield KE, Altarescu G, Schiffmann R. Mucolipidosis type IV: characteristic MRI findings. Neurology. 1998;51:565–569
  6. Lubensky IA, Schiffmann R, Goldin E, Tsokos M. Lysosomal inclusions in gastric parietal cells in mucolipidosis type IV: a novel cause of achlorhydria and hypergastrinemia. Am J Surg Pathol. 1999;23:1527–1531
  7. Riedel KG, Zwaan J, Kenyon KR, Kolodny EH, Hanninen L, Albert DM. Ocular abnormalities in mucolipidosis IV. Am J Ophthalmol. 1985;99:125–136
  8. Chitayat D, Meunier CM, Hodgkinson KA, et al. Mucolipidosis type IV: clinical manifestations and natural history. Am J Med Gen. 1991;41:313–318
  9. Weitz R, Kohn G. Clinical spectrum of mucolipidosis type IV. Pediatrics. 1988;81:602–603
  10. Amir N, Zlotogora J, Bach G. Mucolipidosis type IV: clinical spectrum and natural history. Pediatrics. 1987;79:953–959
  11. Bach G, Zeigler M, Schaap T, Kohn G. Mucolipidosis type IV: ganglioside sialidase deficiency. Biochem Biophys Res Commun. 1979;90:1341–1347
  12. Bach G. Mucolipidosis type IV. Mol Genet Metab. 2001;73:197–203
  13. Bach G. Mucolipin 1: endocytosis and cation channel: a review. Eur J Physiol. 2005;451:313–317
  14. Goldin E, Stahl S, Cooney AM, et al. Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV. Hum Mutat. 2004;24:460–465
  15. Jensen RT. Pancreatic endocrine tumors. In:  Goldman L,  Ausiello D editor. Cecil medicine. 23rd ed. Philadelphia: Saunders Elsevier; 2008;p. 1482–1484

PII: S0887-8994(09)00483-4

doi: 10.1016/j.pediatrneurol.2009.10.002

Pediatric Neurology
Volume 42, Issue 3 , Pages 223-226 , March 2010

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