Enzymatic hydrolysis of α-L-fucose from fucosylated glycoconjugates is consequential in bacterial infections and the neurodegenerative lysosomal storage disorder fucosidosis. (bvsalud.org)
Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. (nih.gov)
Mucolipidosis type IV ( ML IV ), like other types of mucolipidosis is an inherited neurodegenerative lysosomal storage disorder. (chemeurope.com)
NCL is a neurodegenerative disease, caused by lysosomal storage dysfunction. (labogen.com)
Disease2
The Lagotto Storage Disease (LSD) is a storage disease with neurodegenerative symptoms, which. (labogen.com)
The Lagotto Storage Disease (LSD) is a storage disease with neurodegenerative symptoms, which leads to cerebellar damage in affected animals. (labogen.com)
Types1
Fucosidosis has been classified into 2 major types. (nih.gov)
Caused by lysosomal2
Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid ( N-ACETYLNEURAMINIC ACID ) within the lysosomes. (nih.gov)
NCL is a neurodegenerative disease, caused by lysosomal storage dysfunction. (labogen.com)
Autosomal1
Giant axonal neuropathy is a rare, autosomal recessive neurodegenerative disease of both the peripheral nervous system (PNS) and the central nervous system (CNS). (radiopaedia.org)
Disorder2
Fucosidosis is a neurodegenerative disorder which progresses inexorably. (nih.gov)
Leukoencephalomyelopathy (LEMP) is a juvenile-onset neurodegenerative disorder in the white matter of the central nervous system (CNS). (labogen.com)