Document Type : Letter to the Editor
Authors
Department of Radiodiagnosis, Dr. D. Y. Patil Medical College and Research Centre, Pune, Maharashtra, India
Abstract
Fucosidosis is a rare autosomal recessive lysosomal storage disorder caused by the deficiency of alpha-L-fucosidase which results in accumulation of fucose rich glycoproteins and glycolipids within the lysosomes in skin, peripheral nerves, brain, heart, and other visceral organs. It is caused by biallelic pathogenic variants in FUCA1 gene localized on chromosome 1p36.11 which causes deficiency of alpha-L-fucosidase.
Keywords
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