The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. Research Abstract Details 

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The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. Abstract Text:

E H Schuchman,E H Schuchman,

Patients with types A and B Niemann-Pick disease (NPD) have an inherited deficiency of acid sphingomyelinase (ASM) activity. The clinical spectrum of this disorder ranges from the infantile, neurological form that results in death by 3 years of age (type A NPD) to the non-neurological form (type B NPD) that is compatible with survival into adulthood. Intermediate cases also have been reported, and the disease is best thought of as a single entity with a spectrum of phenotypes. ASM deficiency is panethnic, but appears to be more frequent in individuals of Middle Eastern and North African descent. Current estimates of the disease incidence range from approximately 0.5 to 1 per 100,000 births. However, these approximations likely under estimate the true frequency of the disorder since they are based solely on cases referred to biochemical testing laboratories for enzymatic confirmation. The gene encoding ASM (SMPD1) has been studied extensively; it resides within an imprinted region on chromosome 11, and is preferentially expressed from the maternal chromosome. Over 100 SMPD1 mutations causing ASM-deficient NPD have been described, and some useful genotype-phenotype correlations have been made. Based on these findings, DNA-based carrier screening has been implemented in the Ashkenazi Jewish community. ASM 'knockout' mouse models also have been constructed and used to investigate disease pathogenesis and treatment. Based on these studies in the mouse model, an enzyme replacement therapy clinical trial has recently begun in adult patients with non-neurological ASM-deficient NPD.

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. Publishing Authors By Initials

EH Schuchman,EH Schuchman,

For similar surgical procedures, operative: splenectomy research abstracts see: surgical procedures, operative: splenectomy research

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The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. Journal Published:

PUBLICATION TYPE: Review

Journal: Journal of inherited metabolic disease

VOLUME: 30

Page Numbers: 654-63

Journal Abbreviation: J. Inherit. Metab. Dis.

ISSN: 1573-2665

DAY: 12

MONTH: 07

YEAR: 2007

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. Information

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LANGUAGE: eng

NlmUniqueID: 7910918

The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. Keywords Mesh Terms:

KEYWORDS: Splenectomy

MESH TERMS: therapeutic use

Chemical & Substance for Abstract: The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. Information

Substance Name: Sphingomyelin Phosphodiesterase

Registry Number: EC 3.1.4.12

Grant and Affiliation Information for The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease.

AFFILIATION: Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, 1425 Madison Avenue, Room 14-20A, New York, NY 10029, USA. edward.schuchman@mssm.edu

Country: Netherlands

AGENCY: United States NICHD

GRANT: HD 286701

ACRONYM: HD

MEDLINETA: J Inherit Metab Dis

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