Acid sphingomyelinase-deficient niemann-pick disease

Edward H. Schuchmann, Margaret McGovern, Calogera M. Simonaro, Melissa P. Wasserstein, Robert J. Desnick

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Citation (Scopus)

Abstract

The first case of Niemann-Pick disease (NPD) was described in 1914 by the German pediatrician, Albert Niemann (Niemann, 1914). Over the ensuing years, numerous reports of infants with similar clinical manifestations appeared, and in 1927 Ludwig Pick distinguished this disorder from infantile Gaucher disease based on the differential appearance of the bone marrow foam cells (Pick, 1927). The first adults with this disease were described in 1946 (Pflander, 1946; Dusendschon, 1946). By 1925, NPD was known as a storage disease, and the storage material was thought to consist primarily of phospholipid and cholesterol (Bloom, 1925; Sobotka, Epstein, and Lichtenstein, 1930). Later Klenk (1934) identified the phospholipid as sphingomyelin. A deficiency of acid sphingomyelinase (ASM; EC 3.1.4.12) activity was first demonstrated in human tissue samples obtained from NPD patients in 1966 In 1961, Crocker classified NPD into four clinical entities, types A to D (Crocker, 1961). The infantile, neurodegenerative phenotype originally described by Niemann was termed type A. Type B NPD was distinguished from this severe neuronopathic phenotype by the absence of primary neurological involvement, later onset of hepatosplenomegaly, and survival into adulthood. Types C and D, initially thought to be allelic forms of types A and B (based on similar morphological and clinical findings), are now known to be distinct disorders (Pentchev et al., 1984; Carstea et al., 1997). This chapter discusses only types A and B NPD, which are also referred to as ASM-deficient NPD.

Original languageEnglish (US)
Title of host publicationLysosomal Storage Disorders
PublisherSpringer US
Pages257-268
Number of pages12
ISBN (Electronic)9780387709093
ISBN (Print)9780387709086
DOIs
StatePublished - 2007
Externally publishedYes

Fingerprint

Niemann-Pick Diseases
Sphingomyelin Phosphodiesterase
Type B Niemann-Pick Disease
Type A Niemann-Pick Disease
Acids
Phospholipids
Phenotype
Gaucher Disease
Foam Cells
Sphingomyelins
Bone Marrow Cells
Cholesterol
Survival
Foams
Bone

ASJC Scopus subject areas

  • Medicine(all)
  • Biochemistry, Genetics and Molecular Biology(all)

Cite this

Schuchmann, E. H., McGovern, M., Simonaro, C. M., Wasserstein, M. P., & Desnick, R. J. (2007). Acid sphingomyelinase-deficient niemann-pick disease. In Lysosomal Storage Disorders (pp. 257-268). Springer US. https://doi.org/10.1007/978-0-387-70909-3_17

Acid sphingomyelinase-deficient niemann-pick disease. / Schuchmann, Edward H.; McGovern, Margaret; Simonaro, Calogera M.; Wasserstein, Melissa P.; Desnick, Robert J.

Lysosomal Storage Disorders. Springer US, 2007. p. 257-268.

Research output: Chapter in Book/Report/Conference proceedingChapter

Schuchmann, EH, McGovern, M, Simonaro, CM, Wasserstein, MP & Desnick, RJ 2007, Acid sphingomyelinase-deficient niemann-pick disease. in Lysosomal Storage Disorders. Springer US, pp. 257-268. https://doi.org/10.1007/978-0-387-70909-3_17
Schuchmann EH, McGovern M, Simonaro CM, Wasserstein MP, Desnick RJ. Acid sphingomyelinase-deficient niemann-pick disease. In Lysosomal Storage Disorders. Springer US. 2007. p. 257-268 https://doi.org/10.1007/978-0-387-70909-3_17
Schuchmann, Edward H. ; McGovern, Margaret ; Simonaro, Calogera M. ; Wasserstein, Melissa P. ; Desnick, Robert J. / Acid sphingomyelinase-deficient niemann-pick disease. Lysosomal Storage Disorders. Springer US, 2007. pp. 257-268
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