Tay-Sachs disease is an autosomal recessive lysosomal storage disorder caused by mutations in HEXA that encodes beta hexosaminidase subunit alpha. In the absence of hexosaminidase A, GM2 ganglioside cannot be hydrolyzed and therefore accumulates primarily in neuronal tissues. This results in progressive neurologic degeneration. Patients with infantile Tay-Sachs disease die before the age of five, whereas patients with the juvenile and adult forms have a delayed onset.
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
H02016 Tay-Sachs disease
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
nt06014 Sphingolipid degradation
H02016 Tay-Sachs disease