Fucosidosis: Review of a Rare Disease

Abstract excerpt

Fucosidosis is a rare lysosomal storage disease caused by α-L-fucosidase deficiency following mutation in the FUCA1 gene, in which fucose-bound glycoconjugates accumulate in the lysosomes of different tissues of the body. Fucosidosis is characterized by rapid mental and motor loss, along with growth retardation, coarse facial features, hepatosplenomegaly, telangiectasis or an-giokeratomas, epilepsy, inguinal herni...

Topics

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• Asian People
• Carbohydrate Conformation
• Carbohydrate Sequence
• Child
• Homozygote
• Molecular Sequence Data
• Mutation
• Pedigree

Identifiers and source

Literature Corpus work

bda4abd4-c4cb-5749-9e0c-d72b3b7dc6bf

DOI

10.20944/preprints202412.0912.v1