Open AccessSevere chronic diarrhea and weight loss in cholesteryl ester storage disease: A case report
Author(s) -
Uta Drebber,
Matthias Andersen,
Haino Uwe Kasper,
Peter Lohse,
Manfred Stolte,
Hans Peter Dienes
Publication year - 2005
Publication title -
world journal of gastroenterology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.427
H-Index - 155
eISSN - 2219-2840
pISSN - 1007-9327
DOI - 10.3748/wjg.v11.i15.2364
Subject(s) - malabsorption , diarrhea , exon , medicine , chronic diarrhea , gastroenterology , mutation , weight loss , compound heterozygosity , pathology , biology , gene , genetics , obesity
An inherited deficiency of human lysosomal acid lipase (LAL) results in the rare conditions of Wolman disease and cholesteryl ester storage disease (CESD). We want to present the rare case of CESD in an adult.