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Cholesteryl Ester Storage Disease

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https://www.readbyqxmd.com/read/29358478/identification-of-rare-diseases-by-screening-a-population-selected-on-the-basis-of-routine-pathology-results-the-pathfinder-project-lysosomal-acid-lipase-cholesteryl-ester-storage-disease-substudy
#1
Timothy M Reynolds, Clare Mewies, John Hamilton, Anthony S Wierzbicki
AIMS: Lysosomal acid lipase deficiency (LALD) is an autosomal recessive disorder of cholesterol ester storage associated with hepatic disease, cirrhosis and accelerated atherosclerosis. Its prevalence in the general population, patients with dyslipidaemia and raised transaminases is unclear. This study attempted to identify the prevalence of LALD from patients with abnormal results in laboratory databases. METHODS: Electronic laboratory databases were interrogated to identify from clinical biochemistry records patients with a phenotype of low high-density lipoprotein-cholesterol (≤0...
January 22, 2018: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29246491/impact-of-loss-of-soat2-function-on-disease-progression-in-the-lysosomal-acid-lipase-deficient-mouse
#2
Adam M Lopez, Jen-Chieh Chuang, Stephen D Turley
Although only a small proportion of cholesterol in the body is esterified, in several diseases marked expansion of the esterified cholesterol (EC) pool occurs. These include Wolman disease (WD) and Cholesteryl Ester Storage Disease (CESD) which both result from mutations in LIPA, the gene that encodes lysosomal acid lipase (LAL). The respective contributions that our three cholesterol esterifying enzymes make to EC production, especially in disorders like CESD, are not well defined. The current studies represent a detailed exploration of our earlier findings in young male LAL-deficient mice also missing sterol-O-acyltransferase 2 (SOAT2, also called ACAT2)...
December 12, 2017: Steroids
https://www.readbyqxmd.com/read/29234937/-lysosomal-acid-lipase-deficiency-lal-d-diagnostic-and-therapeutic-options-in-an-underdiagnosed-disease
#3
REVIEW
S Synoracki, S Kathemann, K W Schmid, H Jastrow, H A Baba
BACKGROUND AND CLINICAL SETTING: Lysosomal acid lipase deficiency is an autosomal recessive storage disease caused by mutations in the LIPA gene. The accumulation of cholesteryl esters and triglycerides in hepatocytes lead to hepatomegaly with progressive fibrosis and liver cirrhosis. Characteristically, patients have a hepatomegaly combined with high serum levels of cholesterol, LDL-cholesterol and in some cases triglyceride, whereas HDL-cholesterol is decreased. Histologically, hepatocytes show a microvesicular steatosis with typically ballooned Kupffer cells...
December 12, 2017: Der Pathologe
https://www.readbyqxmd.com/read/29196158/prevalence-of-cholesteryl-ester-storage-disease-among-hypercholesterolemic-subjects-and-functional-characterization-of-mutations-in-the-lysosomal-acid-lipase-gene
#4
Terje Vinje, Lene Wierød, Trond P Leren, Thea Bismo Strøm
Lysosomal acid lipase hydrolyzes cholesteryl esters and triglycerides contained in low density lipoprotein. Patients who are homozygous or compound heterozygous for mutations in the lysosomal acid lipase gene (LIPA), and have some residual enzymatic activity, have cholesteryl ester storage disease. One of the clinical features of this disease is hypercholesterolemia. Thus, patients with hypercholesterolemia who do not carry a mutation as a cause of autosomal dominant hypercholesterolemia, may actually have cholesteryl ester storage disease...
November 23, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29091130/importance-of-liver-biopsy-in-the-diagnosis-of-lysosomal-acid-lipase-deficiency-a-case-report
#5
Adriana Maria Alves De Tommaso, Flávia Fonseca de Carvalho Barra, Gabriel Hessel, Carolina Araújo Moreno, Roberto Giugliani, Cecília Amélia Fazzio Escanhoela
OBJECTIVE: To describe a case of cholesteryl ester storage disease (CESD) and discuss the importance of liver biopsy for diagnosis. CASE DESCRIPTION: A female patient, aged two years and ten months, presented with an increased abdominal volume following hepatomegaly for four months. Abdominal ultrasound demonstrated hepatomegaly and hepatic steatosis. Laboratory tests showed elevated liver serum enzymes and dyslipidemia. Liver biopsy was consistent with CESD. COMMENTS: Although measuring enzyme activity is the gold standard for CESD diagnosis, liver biopsy is very helpful when investigating suspected cases of CESD, particularly upon other differential diagnoses to be considered...
October 30, 2017: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
https://www.readbyqxmd.com/read/28888831/steryl-ester-synthesis-storage-and-hydrolysis-a-contribution-to-sterol-homeostasis
#6
REVIEW
Martina Korber, Isabella Klein, Günther Daum
Sterols are essential lipids of all eukaryotic cells, appearing either as free sterols or steryl esters. Besides other regulatory mechanisms, esterification of sterols and hydrolysis of steryl esters serve to buffer both an excess and a lack of free sterols. In this review, the esterification process, the storage of steryl esters and their mobilization will be described. Several model organisms are discussed but the focus was set on mammals and the yeast Saccharomyces cerevisiae. The contribution of imbalanced cholesterol homeostasis to several human diseases, namely Wolman disease, cholesteryl ester storage disease, atherosclerosis and Alzheimer's disease, Niemann-Pick type C and Tangier disease is described...
December 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28878811/serum-metabolites-in-non-alcoholic-fatty-liver-disease-development-or-reversion-a-targeted-metabolomic-approach-within-the-predimed-trial
#7
Christopher Papandreou, Mònica Bullò, Francisco José Tinahones, Miguel Ángel Martínez-González, Dolores Corella, Georgios A Fragkiadakis, José López-Miranda, Ramon Estruch, Montserrat Fitó, Jordi Salas-Salvadó
BACKGROUND: Limited prospective studies have examined changes in non-alcoholic fatty-liver disease (NAFLD) related serum-metabolites and none the effects of NAFLD-reversion. We aimed to evaluate whether perturbations in metabolites indicate predisposition to NAFLD development and to assess the effects of NAFLD reversion on metabolite profiles. METHODS: A targeted liquid-chromatography tandem mass-spectrometry metabolic profiling (n = 453 metabolites) approach was applied, using serum from 45 subjects of the PREDIMED study, at baseline and after a median 3...
2017: Nutrition & Metabolism
https://www.readbyqxmd.com/read/28685844/genetic-characterization-of-gsd-i-in-serbian-population-revealed-unexpectedly-high-incidence-of-gsd-ib-and-three-novel-slc37a4-variants
#8
Anita Skakic, Maja Djordjevic, Adrijan Sarajlija, Kristel Klaassen, Natasa Tosic, Bozica Kecman, Milena Ugrin, Vesna Spasovski, Sonja Pavlovic, Maja Stojiljkovic
Glycogen storage disease (GSD) type I is inborn metabolic disease characterized by accumulation of glycogen in multiple organs. We analyzed 38 patients with clinical suspicion of GSD I using Sanger and next-generation sequencing (NGS). We identified 28 GSD Ib and five Ia patients. In five patients, GSD III, VI, IX, cholesteryl-ester storage disease and Shwachman-Diamond syndrome diagnoses were set using NGS. Incidences for GSD Ia and GSD Ib were estimated at 1:172746 and 1:60461 live-births respectively. Two variants were identified in G6PC gene: c...
July 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28659158/neural-stem-cells-for-disease-modeling-of-wolman-disease-and-evaluation-of-therapeutics
#9
Francis Aguisanda, Charles D Yeh, Catherine Z Chen, Rong Li, Jeanette Beers, Jizhong Zou, Natasha Thorne, Wei Zheng
BACKGROUND: Wolman disease (WD) is a rare lysosomal storage disorder that is caused by mutations in the LIPA gene encoding lysosomal acid lipase (LAL). Deficiency in LAL function causes accumulation of cholesteryl esters and triglycerides in lysosomes. Fatality usually occurs within the first year of life. While an enzyme replacement therapy has recently become available, there is currently no small-molecule drug treatment for WD. RESULTS: We have generated induced pluripotent stem cells (iPSCs) from two WD patient dermal fibroblast lines and subsequently differentiated them into neural stem cells (NSCs)...
June 28, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28401034/targeting-wolman-disease-and-cholesteryl-ester-storage-disease-disease-pathogenesis-and-therapeutic-development
#10
REVIEW
Francis Aguisanda, Natasha Thorne, Wei Zheng
Wolman disease (WD) and cholesteryl ester storage disease (CESD) are lysosomal storage diseases (LSDs) caused by a deficiency in lysosomal acid lipase (LAL) due to mutations in the LIPA gene. This enzyme is critical to the proper degradation of cholesterol in the lysosome. LAL function is completely lost in WD while some residual activity remains in CESD. Both are rare diseases with an incidence rate of less than 1/100,000 births for WD and approximate 2.5/100,000 births for CESD. Clinical manifestation of WD includes hepatosplenomegaly, calcified adrenal glands, severe malabsorption and a failure to thrive...
2017: Current Chemical Genomics and Translational Medicine
https://www.readbyqxmd.com/read/28322747/quantitation-of-the-rates-of-hepatic-and-intestinal-cholesterol-synthesis-in-lysosomal-acid-lipase-deficient-mice-before-and-during-treatment-with-ezetimibe
#11
COMPARATIVE STUDY
Jen-Chieh Chuang, Adam M Lopez, Stephen D Turley
Esterified cholesterol (EC) and triglycerides, contained within lipoproteins taken up by cells, are hydrolysed by lysosomal acid lipase (LAL) in the late endosomal/lysosomal (E/L) compartment. The resulting unesterified cholesterol (UC) is transported via Niemann-Pick type C2 and C1 into the cytosolic compartment where it enters a putative pool of metabolically active cholesterol that is utilized in accordance with cellular needs. Loss-of-function mutations in LIPA, the gene encoding LAL, result in dramatic increases in tissue concentrations of EC, a hallmark feature of Wolman disease and cholesteryl ester storage disease (CESD)...
July 1, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/28318950/cholesteryl-ester-storage-disease-an-underdiagnosed-cause-of-cirrhosis-in-adults
#12
REVIEW
Mamta Pant, Kiyoko Oshima
Cholesteryl Ester Storage Disease (CESD), is a rare multisystem autosomal recessive disorder and belongs to the broad family of lysosomal storage disorders. It can present anytime from infancy and childhood to even adulthood. The clinical manifestations are generally severe in infants and with milder forms in adults. One of the prominent sites of involvement is liver. Due to low awareness of this condition among physicians including surgical pathologists, majority of the liver biopsies, especially from the adults are often misdiagnosed as non-alcoholic fatty liver disease/non-alcoholic steatohepatitis or cryptogenic cirrhosis...
February 9, 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28220406/lysosomal-acid-lipase-deficiency-in-23-spanish-patients-high-frequency-of-the-novel-c-966-2t-g-mutation-in-wolman-disease
#13
Carla Ruiz-Andrés, Elena Sellés, Angela Arias, Laura Gort
Lysosomal acid lipase (LAL) is a lysosomal key enzyme involved in the intracellular hydrolysis of cholesteryl esters and triglycerides. Patients with very low residual LAL activity present with the infantile severe form Wolman disease (WD), while patients with some residual activity develop the less severe disorder known as Cholesteryl ester storage disorder (CESD). We present the clinical, biochemical, and molecular findings of 23 Spanish patients (22 families) with LAL deficiency. We identified eight different mutations, four of them not previously reported...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28197978/managing-cardiovascular-risk-in-lysosomal-acid-lipase-deficiency
#14
REVIEW
James J Maciejko
Lysosomal acid lipase deficiency (LAL-D) is a rare, life-threatening, autosomal recessive, lysosomal storage disease caused by mutations in the LIPA gene, which encodes for lysosomal acid lipase (LAL). This enzyme is necessary for the hydrolysis of cholesteryl ester and triglyceride in lysosomes. Deficient LAL activity causes accumulation of these lipids in lysosomes and a marked decrease in the cytoplasmic free cholesterol concentration, leading to dysfunctional cholesterol homeostasis. The accumulation of neutral lipid occurs predominantly in liver, spleen, and macrophages throughout the body, and the aberrant cholesterol homeostasis causes a marked dyslipidemia...
June 2017: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/28183748/morphology-of-wolman-cholesteryl-ester-storage-disease
#15
Robin M Ireland
No abstract text is available yet for this article.
February 9, 2017: Blood
https://www.readbyqxmd.com/read/28105569/the-spectrum-of-niemann-pick-type-c-disease-in-greece
#16
Irene Mavridou, Evangelia Dimitriou, Marie T Vanier, Lluisa Vilageliu, Daniel Grinberg, Philippe Latour, Athina Xaidara, Lilia Lycopoulou, Sevasti Bostantjopoulou, Dimitrios Zafeiriou, Helen Michelakakis
Niemann-Pick type C disease (NPC) is a neurovisceral lysosomal storage disease caused by mutations in either the NPC1 or the NPC2 gene. It is a cellular lipid trafficking disorder characterized by the accumulation of unesterified cholesterol and various sphingolipids in the lysosomes and late endosomes, and it exhibits a broad clinical spectrum. Today, over 420 disease-causing mutations have been identified in the NPC1 and the NPC2 genes. We present the clinical, biochemical, and molecular findings in 14 cases diagnosed in Greece during the last 28 years...
2017: JIMD Reports
https://www.readbyqxmd.com/read/27905068/inhibition-of-mevalonate-pathway-and-synthesis-of-the-storage-lipids-in-human-liver-derived-and-non-liver-cell-lines-by-lippia-alba-essential-oils
#17
Sandra Montero-Villegas, Mónica Polo, Marianela Galle, Boris Rodenak-Kladniew, María Castro, Ana Ves-Losada, Rosana Crespo, Margarita García de Bravo
The essential oils (EOs) of Lippia alba, an herb extensively used as a folk medicine in Latin America, are today promoted as an effective means of eliminating problems caused by hyperlipemia. We hypothesized that L.alba EOs inhibited cholesterol and triacylglycerols synthesis and decreased the intracellular depots of those lipids (lipid droplets), mechanisms involving the induction of a hypolipidemic response. Our aim was, therefore, to evaluate the hypolipogenic capability of the EOs of four L. alba chemotypes on liver-derived (HepG2) and non-liver (A549) human cell lines and to identify the potential biochemical targets of those chemotypes, particularly within the mevalonate pathway (MP)...
January 2017: Lipids
https://www.readbyqxmd.com/read/27878737/sebelipase-alfa-a-review-in-lysosomal-acid-lipase-deficiency
#18
REVIEW
James E Frampton
Sebelipase alfa (Kanuma®, Kanuma™), the first commercially available recombinant human lysosomal acid lipase (LAL), is approved in various countries worldwide, including those of the EU, the USA and Japan, as a long-term enzyme replacement therapy for patients diagnosed with LAL deficiency (LAL-D), an ultra-rare, autosomal recessive, progressive metabolic liver disease. In an ongoing study in nine infants presenting with early-onset LAL-D (Wolman disease), open-label treatment with sebelipase alfa significantly improved 1-year survival compared with historical controls...
December 2016: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/27624512/lysosomal-acid-lipase-deficiency-unmasked-in-two-children-with-nonalcoholic-fatty-liver-disease
#19
Ryan W Himes, Sarah E Barlow, Kevin Bove, Norma M Quintanilla, Rachel Sheridan, Rohit Kohli
Lysosomal acid lipase deficiency (LAL-D) is a classic lysosomal storage disorder characterized by accumulation of cholesteryl ester and triglyceride. Although it is associated with progressive liver injury, fibrosis, and end-stage liver disease in children and adolescents, LAL-D frequently presents with nonspecific signs that overlap substantially with other, more common, chronic conditions like nonalcoholic fatty liver disease (NAFLD), metabolic syndrome, and certain inherited dyslipidemias. We present 2 children with NAFLD who achieved clinically significant weight reduction through healthy eating and exercise, but who failed to have the anticipated improvements in aminotransferases and γ-glutamyl transferase...
October 2016: Pediatrics
https://www.readbyqxmd.com/read/27392817/successful-long-term-outcome-of-liver-transplantation-in-late-onset-lysosomal-acid-lipase-deficiency
#20
S Sreekantam, I Nicklaus-Wollenteit, J Orr, K Sharif, S Vijay, P J McKiernan, S Santra
Late-onset LAL deficiency, previously referred to as cholesteryl ester storage disorder, is a rare lysosomal storage disorder characterized by accumulation of cholesteryl esters. It has a heterogeneous clinical phenotype including abdominal pain, poor growth, hyperlipidemia with vascular complications and hepatosplenomegaly. End-stage liver disease may occur, but there are few reports of successful LT. There are also concerns that systemic manifestations of the disease might persist post-LT. We report a case with excellent outcome eight yr following LT...
September 2016: Pediatric Transplantation
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