Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.

@article{AlHassnan2009SphingolipidAP,
  title={Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.},
  author={Zuhair N. Al-Hassnan and Hesham al Dhalaan and Zoltan Patay and Eissa Ali Faqeih and Mohammed A Al-Owain and Adel Al-Duraihem and Mohammed Faiyaz-Ul-Haque},
  journal={Journal of child neurology},
  year={2009},
  volume={24 12},
  pages={1513-9}
}
Mutated PSAP gene resulting in sphingolipid activator protein B deficiency is known to cause metachromatic leukodystrophy variant in which arylsulfatase A is normal. Of 16 patients with metachromatic leukodystrophy that were evaluated in our center, 7 patients were diagnosed with arylsulfatase A-deficient metachromatic leukodystrophy, whereas 9 children… CONTINUE READING