Abstract
SEVERAL individuals have been recognised as having an almost complete deficiency of the lysosomal hydrolase α-L-fucosidase (EC 3.2.1.51) in their tissues and body fluids1–7. This condition (designated fucosidosis) is associated with the accumulation of fucose-containing glycolipids and glycoproteins in various tissues1,5. The clinical manifestations include coarse facial features, progressive psychomotor regression, susceptibility to respiratory infections and severe neurological signs, including generalised spasticity. Two distinct forms of fucosidosis (types 1 and 2) have been recognised7. Both are characterised by a virtually complete deficiency of α-fucosidase activity when assayed with artificial substrates. Physical and mental deterioration, however, proceeds far more rapidly in type 1 and these patients do not survive beyond early childhood. Type 2 patients can survive to adult life3. Additional features which distinguish the two forms of the disease are the presence, in type 2 only, of the skin lesion, angiokeratoma corporis diffusum, and an elevation in type 1 only, of the NaCl concentration in sweat7.
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TURNER, B., BERATIS, N., TURNER, V. et al. Silent allele as genetic basis of fucosidosis. Nature 257, 391–392 (1975). https://doi.org/10.1038/257391a0
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DOI: https://doi.org/10.1038/257391a0
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