fucosidosis

Pathology

• lysosomal storage_disease
• accumulation of fucose-containing glycolipids & glycoproteins in various tissues
• cerebral degeneration
  • angiokeratoma

Genetics

• autosomal recessive
• associated with defects in FUCA1

Clinical manifestations

• progressive psychomotor deterioration
• growth retardation
• muscle spasticity
• thick skin

Laboratory

• alpha-fucosidase in dried blood spot
• alpha-fucosidase in fibroblasts
• alpha-fucosidase in leukocytes

More general terms

• mucolipidosis

Database

• OMIM: https://mirror.omim.org/entry/230000