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.
Category
Inherited metabolic disorder, Lysosomal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C56 Lysosomal diseases
H02017 Sandhoff disease
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
nt06014 Sphingolipid degradation
H02017 Sandhoff disease
Bolhuis PA, Ponne NJ, Bikker H, Baas F, Vianney de Jong JM
Title
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.
