Etiology of a New Identified Gaucher Disease Variant without Glucosylceramidase Defect View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

1988

AUTHORS

Helen Christomanou , Annemarie Aignesberger , Norbert Herschkowitz , Ulrich N. Wiesmann

ABSTRACT

Gaucher disease, the most prevalent lysosomal storage disease, is a group of autosomal recessively inherited disorders characterized by the accumulation of glucosylceramide in lysosomes of the cells of the reticuloendothelial system. This sphingolipidosis is caused by the hereditary deficiency of the membran associated lysosomal enzyme β-glucosylceramidase which catalyses the hydrolysis of the glycosphingolipid glucosylceramide to glucose and ceramide (1). On the basis of the absence or presence and severity of the clinical manifestations of the central nervous system involvement, three main types have been distinguished, namely: type 1- the adult or non-neuronopathic form; type 2- the infantile or acute neuronopathic form; and type 3- the juvenile or subacute neuronopathic form. It was type 1 disorder that Philippe Gaucher originally described in 1882. This type is the most common form in the world and has an increased incidence in the Ashkenazi Jewish population. Hepatosplenomegaly, bone disease and the absence of neuronopathic manifestations are characteristic. Type 2 Gaucher disease is a rare, panethnic acute neuronopathic disorder characterized by hepatosplenomegaly, failure to thrive and progressive psychomotor degeneration usually resulting in death by 2 years of age. Type 3 Gaucher disease occurs primarily in Swedish individuals of the most northern province Norbotten and is characterized by the juvenile onset of variable neuronopathic manifestations. It is obvious today that each of the three types comprises several variants due to different allelic mutations. More... »

PAGES

89-95

Book

TITLE

Lipid Storage Disorders

ISBN

978-1-4612-8300-3
978-1-4613-1029-7

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-1-4613-1029-7_10

DOI

http://dx.doi.org/10.1007/978-1-4613-1029-7_10

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1046118000


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