Hurler, Scheie, and Hurler-Scheie ‘compound’: Residual activity of α-l-iduronidase toward natural substrates suggesting allelic mutations

@article{Matalon1983HurlerSA,
  title={Hurler, Scheie, and Hurler-Scheie ‘compound’: Residual activity of α-l-iduronidase toward natural substrates suggesting allelic mutations},
  author={Reuben K Matalon and Minerva Deanching and Ken Omura},
  journal={Journal of Inherited Metabolic Disease},
  year={1983},
  volume={6},
  pages={133-134}
}
Hurler and Scheie syndromes are disorders of acid mucopolysaccharide (AMPS) metabolism, characterized by mucopolysacchariduria and ~-L-iduronidase deficiency. Despite the similarity in the enzyme deficiency, these diseases are clinically different. Hurler's disease is the most severe mucopolysaccharidosis, with physical and mental defects and early death, while the Scheie syndrome is compatible with long life, is not associated with mental retardation and the skeletal deformities are mild… CONTINUE READING

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