Sandhoff disease

Definition:

Sandhoff disease is an autosomal recessive lysosomal storage disorder caused by mutations in HEXB that encodes beta-hexosaminidase subunit beta. Sandhoff disease is characterized by combined deficiency of hexosaminidase A (HexA) and hexosaminidase B (HexB) activities. GM2 ganglioside cannot be hydrolyzed and therefore accumulates primarily in neuronal tissues. This results in progressive neurologic degeneration. The severe form is characterized by an early age of onset and a rapidly progressive clinical course leading to death in early childhood, whereas the juvenile and adult forms start later and generally manifest a less severe course.

References:

[1]. Laura Gort, et al. GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients. Gene. 2012 Sep 10;506(1):25-30. [Content Brief]

[2]. P A Bolhuis, et al. Molecular basis of an adult form of Sandhoff disease: substitution of glutamine for arginine at position 505 of the beta-chain of beta-hexosaminidase results in a labile enzyme. Biochim Biophys Acta. 1993 Sep 8;1182(2):142-6. [Content Brief]

[3]. Stefania Zampieri, et al. Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles. Neurogenetics. 2009 Feb;10(1):49-58. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.