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Journal of Inherited Metabolic Disease

, Volume 18, Issue 5, pp 620–623 | Cite as

Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease

  • C. L. Maslen
  • D. Babcock
  • D. R. Illingworth
Article

Summary

Cholesteryl ester storage disease (CESD) and Wolman disease (McKusick 278000) are two distinct autosomal recessive disorders, both attributable to a severe reduction in acid cholesteryl ester hydrolase/lysosomal acid lipase activity (EC 3.1.1.13). We have identified compound heterozygous mutations in a family with two siblings affected with CESD. Molecular genetic analysis revealed two mutations one of which has previously been seen only in Wolman disease. Analysis of these mutations acting in concert provides new insight into the correlation of genotype with phenotype in these allelic disorders.

Keywords

Cholesteryl Ester Cholesteryl Ester Hydrolase Lysosomal Acid Cholesterol Ester Hydrolase Cholesteryl Ester Hydrolase Activity 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

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Copyright information

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1995

Authors and Affiliations

  • C. L. Maslen
    • 1
    • 2
    • 3
  • D. Babcock
    • 1
  • D. R. Illingworth
    • 1
  1. 1.Division of Endocrinology, Diabetes and Clinical NutritionDepartment of MedicineUSA
  2. 2.Department of Molecular and Medical GeneticsOregon Health Sciences UniversityPortlandUSA
  3. 3.The University Congenital Heart Research CenterOregon Health Sciences UniversityPortlandUSA

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