Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease.

@article{Mazrier2003InheritanceBA,
  title={Inheritance, biochemical abnormalities, and clinical features of feline mucolipidosis II: the first animal model of human I-cell disease.},
  author={Hamutal Mazrier and M Van Hoeven and Pei-Ning Wang and Van W Rafe Knox and Gustavo D. Aguirre and Elaine Holt and Staci P Wiemelt and Meg M. Sleeper and Michael Hubler and Mark E. Haskins and Urs Giger},
  journal={The Journal of heredity},
  year={2003},
  volume={94 5},
  pages={363-73}
}
Mucolipidosis II (ML II), also called I-cell disease, is a unique lysosomal storage disease caused by deficient activity of the enzyme N-acetylglucosamine-1-phosphotransferase, which leads to a failure to internalize enzymes into lysosomes. We report on a colony of domestic shorthair cats with ML II that was established from a half-sibling male of an affected cat. Ten male and 9 female kittens out of 89 kittens in 26 litters born to clinically normal parents were affected; this is consistent… CONTINUE READING

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