Lysosomal acid lipase A and the hypercholesterolaemic phenotype.

@article{Fouchier2013LysosomalAL,
  title={Lysosomal acid lipase A and the hypercholesterolaemic phenotype.},
  author={Sigrid W. Fouchier and Joep C. Defesche},
  journal={Current opinion in lipidology},
  year={2013},
  volume={24 4},
  pages={332-8}
}
PURPOSE OF REVIEW Mutations in lysosomal acid lipase A (LIPA) result in two phenotypes depending on the extent of lysosomal acid lipase (LAL) deficiency: the severe, early-onset Wolman disease or the less severe cholesteryl ester storage disease (CESD). In CESD, the severity of the symptoms, hepatomegaly and hypercholesterolaemia, can be highly variable, presenting in childhood or adulthood. Therefore, it is likely that many patients are undiagnosed or misdiagnosed. Nevertheless, LAL deficiency… CONTINUE READING
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