Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease
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TLDR
All 112 liver biopsied patients had the characteristic pathology, which is progressive, and includes microvesicular steatosis, which leads to fibrosis, micronodular cirrhosis, and ultimately to liver failure.About:
This article is published in Journal of Hepatology.The article was published on 2013-06-01 and is currently open access. It has received 284 citations till now. The article focuses on the topics: Cholesterol ester storage disease & Lysosomal acid lipase deficiency.read more
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Journal ArticleDOI
Combined Hepatocellular-Cholangiocarcinoma in a Patient With Cirrhosis Due to Cholesteryl Ester Storage Disease.
Graciela Elia Castro Narro,Armando Gamboa Domínguez,Alejandra Consuelo Sánchez,Abel Salazar Martínez,Jose Agramonte Hevia,J.J. Cebolla,Miguel Enrique Cuellar Mendoza,Héctor Adrián Díaz Hernández +7 more
TL;DR: The case of a patient who presented a combined hepatocellular-cholangiocarcinoma as a complication of cirrhosis due to cholesteryl ester storage disease, a complication not previously reported in this group of patients is reported.
Journal ArticleDOI
Lysosomal acid lipase deficiency, a rare pathology
Catalina Gómez-Duarte,Victor H. Garcia,Verónica Botero,Ana M. Aristizabal,Gabriel J. Echeverri,Harry Pachajoa +5 more
TL;DR: Deficit of this enzyme results in decreased hydrolysis and accumulation of cholesterol and triglyceride esters in liver lysosomes, blood vessels, the spleen, adrenal glands, hematopoietic system, lymph nodes and gastrointestinal tract, and it is associated with reduced generation of free cholesterol and free fatty acids.
Journal ArticleDOI
Lysosomal acid lipase does not have a propeptide and should not be considered being a proprotein.
Thea Bismo Strøm,Terje Vinje,Katrine Bjune,Luis Teixeira da Costa,Jon K. Laerdahl,Jon K. Laerdahl,Trond P. Leren +6 more
TL;DR: The data, in addition to bioinformatics analyses, indicate that LAL is not a proprotein, and it is possible that the previously reported cleavage at Lys76↓ could have resulted from exposure to proteolytic enzymes during the multistep purification procedure.
Journal ArticleDOI
Lysosomal acid lipase deficiency: A rare inherited dyslipidemia but potential ubiquitous factor in the development of atherosclerosis and fatty liver disease
TL;DR: The need to further interrogate the pathophysiological impact and cell type-specific role of enhancing LAL activity as a novel treatment strategy to reduce the development and induce the regression of ischemic cardiovascular disease and fatty liver is highlighted.
Book ChapterDOI
Childhood Liver Disease and Metabolic Disorders
TL;DR: The knowledge base of the variety of progressive familial intrahepatic cholestasis (PFIC) conditions has now expanded beyond three types to six (if mutation of the MYO5D gene is nominally included as type 6), and the added types include PFIC-4 with mutations of the tight junction protein 2 gene, resulting in diminished expression of claudin-1 on bile canaliculi.
References
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Book
The Metabolic and Molecular Bases of Inherited Disease
TL;DR: In this paper, the authors present a list of disorders of MITOCHONDRIAL FUNCTION, including the following: DISORDERS OF MIOCHONDRIC FERTILITY XIX, XVI, XIX.
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The metabolic basis of inherited disease
TL;DR: The metabolic basis of inherited disease, the metabolic basis for inherited disease as mentioned in this paper, The metabolic basis in inherited disease and inherited diseases, and inherited disease diagnosis and management, in the context of inherited diseases
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The Human Gene Mutation Database: 2008 update
Peter D. Stenson,Matthew Mort,Edward V. Ball,Katy Howells,Andrew David Phillips,Nicholas Stuart Tudor Thomas,David Neil Cooper +6 more
TL;DR: Although originally established for the scientific study of mutational mechanisms in human genes, HGMD has since acquired a much broader utility for researchers, physicians, clinicians and genetic counselors as well as for companies specializing in biopharmaceuticals, bioinformatics and personalized genomics.
Journal ArticleDOI
Drug-induced toxicity on mitochondria and lipid metabolism: Mechanistic diversity and deleterious consequences for the liver
TL;DR: In obese and diabetic patients, some drugs may induce acute liver injury more frequently while others may worsen the pre-existent steatosis (or steatohepatitis), which is characterized not only by lipid accumulation but also by necroinflammation and fibrosis.
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