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Two Siblings with Niemann-Pick Disease (NPD) Type B: Clinical Findings and Novel Mutations of the Acid Sphingomyelinase Gene

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Abstract

Acid sphingomyelinase deficiency leads to the accumulation of sphingomyelin in cells, causing Niemann-Pick disease (NPD) types A/B. RF (13.66 y) and HF (3 y) are brother and sister. RF growth was markedly delayed at the age of 12.66 y (123 cm; −3.25 SD), while at the age 3 y his sister is 86 cm (−2.75 SD). The brother had a huge liver (13 cm) and spleen (12 cm). His sister also had an enlarged liver, but presented no other symptoms. The fibroblast cultivation had a reduced sphingomyelinase activity in the fibroblasts (0.68 mkat/kg protein), β-galaktosidase (937 mkat/kg) and glucosilceramidase (125.4 mkat/kg) were elevated. Mutational analysis demonstrated the siblings are compound heterozygotes (V112M and H554Y). The mother is carrier of V112M and the father carries H554Y. This is the first report of NPD type B in Macedonia. The novel mutation results in a moderately severe phenotype of NPD type B.

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References

  1. Schuchman EH, Desnick RJ. Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. In: Scriver CR, Beaudet AL, Valle D, Sly WS, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw Hill; 2001. pp. 3589–610.

    Google Scholar 

  2. McGovern MM, Aron A, Brodie SE, Desnick RJ, Wasserstein MP. Natural history of type A Niemann-Pick disease: possible endpoints for therapeutic trials. Neurology. 2006;66:228–32.

    Article  PubMed  CAS  Google Scholar 

  3. Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. Int J Clin Pharmacol Ther. 2009;47:S48–57.

    PubMed  CAS  Google Scholar 

  4. McGovern MM, Wasserstein MP, Giugliani R, et al. A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. Pediatrics. 2008;122:e341–9.

    Article  PubMed  Google Scholar 

  5. McGovern MM, Schuchman EH. Acid sphingomyelinase deficiency. In: Pagon RA, Bird TD, Dolan CR, Stephens K, eds. GeneReviews [Internet]. Seattle (WA): University of Washington; 1993–2006 Dec 07 [updated 2009 Jun 25].

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Conflict of Interest

EHS is an inventor on patents related to the treatment of NPD that have been licensed to the Genzyme Corporation, and also is a consultant for Genzyme and receives a research grant to study NPD.

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Authors and Affiliations

  1. Department of Endocrinology and Genetics, Pediatric Clinic, Medical Faculty Skopje, 50 Divizija BB, 1000, Skopje, Macedonia

    Zoran Gucev, Velibor Tasic, Nada Pop-Jordanova & Aleksandra Jancevska

  2. Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, 1425 Madison Avenue, Room 14-20A, New York, NY, 10029, USA

    Calogera M. Simonaro & Edward H. Schuchmann

Authors
  1. Zoran Gucev
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  2. Velibor Tasic
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  3. Nada Pop-Jordanova
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  4. Aleksandra Jancevska
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  5. Calogera M. Simonaro
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  6. Edward H. Schuchmann
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Correspondence to Zoran Gucev.

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Gucev, Z., Tasic, V., Pop-Jordanova, N. et al. Two Siblings with Niemann-Pick Disease (NPD) Type B: Clinical Findings and Novel Mutations of the Acid Sphingomyelinase Gene. Indian J Pediatr 80, 163–164 (2013). https://doi.org/10.1007/s12098-012-0717-9

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  • DOI: https://doi.org/10.1007/s12098-012-0717-9

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