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[PMID]: 29445937
[Au] Autor:Althonaian N; Alsultan A; Morava E; Alfadhel M
[Ad] Address:King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.
[Ti] Title:Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.
[So] Source:JIMD Rep;, 2018 Feb 15.
[Is] ISSN:2192-8304
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Hemophagocytic lymphohistiocytosis (HLH) is a rare but potentially fatal disease that is characterized by proliferation and infiltration of hyperactivated macrophages and T-lymphocytes. Clinically, it is characterized by prolonged fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, pancytopenia, and hemophagocytosis in the bone marrow, spleen, or lymph nodes. It can be classified as primary if it is due to a genetic defect, or secondary if it is due to a different etiology such as severe infection, immune deficiency syndrome, rheumatological disorder, malignancy, and inborn errors of metabolism such as galactosemia, multiple sulfatase deficiency, lysinuric protein intolerance, Gaucher disease, Niemann-Pick disease, Wolman disease, propionic acidemia, methylmalonic acidemia, biotinidase deficiency, cobalamin C defect, galactosialidosis, Pearson syndrome, and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. For the first time in the literature, we report on a 5-year-old girl diagnosed with a Component of Oligomeric Golgi Complex 6 (COG6) gene defect complicated by HLH. Finally, we review the literature on inborn errors of metabolism associated with HLH and compare the previously reported patients of COG6 gene defect with our patient.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180215
[Lr] Last revision date:180215
[St] Status:Publisher
[do] DOI:10.1007/8904_2018_88

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[PMID]: 28456990
[Au] Autor:Verma J; Bijarnia-Mahay S; Verma IC
[Ad] Address:Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
[Ti] Title:Prenatal Diagnosis of Lysosomal Storage Disorders Using Chorionic Villi.
[So] Source:Methods Mol Biol;1594:265-291, 2017.
[Is] ISSN:1940-6029
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Prenatal enzymatic diagnosis for an array of lysosomal storage disorders (LSDs) can be performed accurately, provided that a confirmed diagnosis by biochemical/molecular study in the index case is available and a strict defined protocol, specific to each individual disorder is followed. The present chapter describes the protocols for reliable and accurate prenatal enzymatic diagnoses by fluorometric and spectrophotometric methods of lysosomal storage disorders: Gaucher, Fabry, Pompe, Niemann Pick A/B, Tay Sach, Sandhoff, GM1, Mucoplysaccharidoses, Wolman, Krabbe, Metachromatic leukodystrophy, and Batten diseases using uncultured chorionic villi samples. The biological reference intervals for enzyme levels in normal and affected fetuses are given for interpretation of prenatal results. It is imperative to establish normal reference interval in each laboratory to take into account the local environment, technical variations, and different ethnicities. Besides, enzyme activity in the fetus should be represented as percentage of the mean activity of enzyme of normal fetuses. The pitfalls and challenges in prenatal diagnosis as well as technical problems in performing enzyme assays are also discussed to help the reader in standardization and performing the assays for correct diagnosis.
[Mh] MeSH terms primary: Chorionic Villi/enzymology
Chorionic Villi/metabolism
Lysosomal Storage Diseases/diagnosis
Lysosomal Storage Diseases/enzymology
Prenatal Diagnosis/methods
[Mh] MeSH terms secundary: Female
Fetus/enzymology
Fetus/metabolism
Humans
Pregnancy
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180212
[Lr] Last revision date:180212
[Js] Journal subset:IM
[Da] Date of entry for processing:170501
[St] Status:MEDLINE
[do] DOI:10.1007/978-1-4939-6934-0_18

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[PMID]: 29374495
[Au] Autor:Di Rocco M; Pisciotta L; Madeo A; Bertamino M; Bertolini S
[Ad] Address:Department of Pediatrics, Unit of Rare Diseases, Giannina Gaslini Institute, Largo Gaslini 3, 16147, Genoa, Italy. majadirocco@gaslini.org.
[Ti] Title:Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency.
[So] Source:Orphanet J Rare Dis;13(1):24, 2018 Jan 27.
[Is] ISSN:1750-1172
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Lysosomal acid lipase deficiency is an autosomal recessive metabolic disease with a wide range of severity from Wolman Disease to Cholesterol Ester Storage Disease. Recently enzyme replacement therapy with sebelipase alpha has been approved by drug agencies for treatment of this lysosomal disease. Ezetimibe is an azetidine derivative which blocks Niemann Pick C1-Like 1 Protein; as its consequence, plasmatic concentration of low density lipoproteins and other apoB-containing lipoproteins, that are the substrate of lysosomal acid lipase, are decreased. Furthermore, ezetimibe acts by blocking inflammasome activation which is the cause of liver fibrosis in steatohepatitis and in lysosomal storage diseases. RESULTS: Two patients with Cholesterol Ester Storage Disease were treated with ezetimibe for 9 years and a third patients for 10 years. Treatment was supplemented with low dose of atorvastatin in the first two patients during the last 6 years. All patients showed a significant reduction of alanine aminotransferase, cholesterol and triglyceride. Furthermore, no progression of liver fibrosis was demonstrated. CONCLUSION: In this observational case series, ezetimibe is effective, safe, and sustainable treatment for lysosomal acid lipase deficiency. Further studies are warranted to demonstrate that ezetimibe is an alternative therapy to enzyme replacement therapy.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180209
[Lr] Last revision date:180209
[St] Status:In-Data-Review
[do] DOI:10.1186/s13023-018-0768-8

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[PMID]: 29339442
[Au] Autor:Masi S; Chennamaneni N; Turecek F; Scott CR; Gelb MH
[Ad] Address:Department of Chemistry, University of Washington, Seattle, WA.
[Ti] Title:Specific Substrate for the Assay of Lysosomal Acid Lipase.
[So] Source:Clin Chem;, 2018 Jan 16.
[Is] ISSN:1530-8561
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Deficiency of lysosomal acid lipase (LAL) causes Wolman disease and cholesterol ester storage disease. With the recent introduction of enzyme replacement therapy to manage LAL deficiency comes the need for a reliable assay of LAL enzymatic activity that can be applied to dried blood spots (DBS). METHODS: We prepared and tested a library of analogs of palmitoyl 4-methylumbelifferyl esters to find a highly active and specific substrate for LAL in DBS. The LAL assay was optimized leading to both LC-MS/MS and fluorometric assay of LAL. We tested the new assay on DBS from healthy and LAL-deficient patients. RESULTS: The ester formed between palmitic acid and 4-propyl-8-methyl-7-hydroxycoumarin (P-PMHC) was found to be >98% selective for LAL in DBS based on the sensitivity of its activity to the LAL-specific inactivator Lalistat-2 and the fact that the activity was close to zero using DBS from patients previously shown to be LAL-deficient. Use of P-PMHC and heavy isotope-labeled internal standard with optimized assay conditions led to an approximately 2-fold increase in the specific activity of LAL compared with the previously reported LAL assay. Patients deficient in LAL were readily distinguished from normal persons with the new LAL assay using UPLC-MS/MS or fluorometric assay platforms. CONCLUSIONS: The new assay can measure LAL in DBS with a single measurement compared with the previous method involving 2 assays done in parallel.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180117
[Lr] Last revision date:180117
[St] Status:Publisher

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[PMID]: 29246491
[Au] Autor:Lopez AM; Chuang JC; Turley SD
[Ad] Address:Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, United States. Electronic address: adam.lopez@utsouthwestern.edu.
[Ti] Title:Impact of loss of SOAT2 function on disease progression in the lysosomal acid lipase-deficient mouse.
[So] Source:Steroids;130:7-14, 2018 Feb.
[Is] ISSN:1878-5867
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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). Here we show that, even as they aged, male and female Lal : Soat2 mice, compared to Lal : Soat2 littermates, had appreciably less hepatomegaly as well as a marked reduction in the level of sequestration of EC, in liver transaminase activities, and in hepatic mRNA expression levels for markers of inflammation. Loss of SOAT2 function also dramatically curtailed EC entrapment in the small intestine of the LAL-deficient mice. Together, these data imply that SOAT2 inhibition, if applied concurrently with enzyme replacement therapy for LAL deficiency, may blunt the re-esterification of newly released unesterified cholesterol thereby improving clinical outcomes.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180111
[Lr] Last revision date:180111
[St] Status:In-Data-Review

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[PMID]: 29234937
[Au] Autor:Synoracki S; Kathemann S; Schmid KW; Jastrow H; Baba HA
[Ad] Address:Institut für Pathologie, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstraße 55, 45147, Essen, Deutschland. sarah.synoracki@uk-essen.de.
[Ti] Title:Mangel an lysosomaler saurer Lipase (LAL-D) : Diagnostik und aktuelle Therapie einer unterdiagnostizierten Erkrankung. [Lysosomal acid lipase deficiency (LAL-D) : Diagnostic and therapeutic options in an underdiagnosed disease].
[So] Source:Pathologe;, 2017 Dec 12.
[Is] ISSN:1432-1963
[Cp] Country of publication:Germany
[La] Language:ger
[Ab] Abstract: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. Even though histological morphology is typical, it is not characteristic. Therefore LAL-D is supposed to be an underdiagnosed disease with a high number of unreported cases misdiagnosed as uncharacteristic fatty liver disease (NASH, NAFLD, cryptogenic liver cirrhosis). Further, there is overlap with other storage diseases, complicating a correct diagnosis. THERAPY: Until recently, different therapeutic options could not prevent development of liver cirrhosis. Patients with Wolman's disease have an especially rapid progression and die within the first six months of life. With the recent development of a new enzyme replacement therapy with sebelipase alfa (Kanuma ®), new therapeutic options with significant improvement of dyslipidemia and reduction of transaminases have become reality. Positive clinical results seem to have the potential to significantly raise life expectancy. CONCLUSION: These new therapeutic options warrant an increase in awareness of LAL-D by clinicians and pathologists. Correct diagnosis of LAL-D is important for effective therapy and long-term survival.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE; REVIEW
[Em] Entry month:1712
[Cu] Class update date: 171213
[Lr] Last revision date:171213
[St] Status:Publisher
[do] DOI:10.1007/s00292-017-0400-z

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[PMID]: 29019745
[Au] Autor:Sargar KM; Khanna G; Hulett Bowling R
[Ad] Address:From the Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S Kingshighway Blvd, Campus Box 8131-MIR, St Louis, MO 63110.
[Ti] Title:Imaging of Nonmalignant Adrenal Lesions in Children.
[So] Source:Radiographics;37(6):1648-1664, 2017 Oct.
[Is] ISSN:1527-1323
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:The adrenal glands in children can be affected by a variety of benign lesions. The diagnosis of adrenal lesions can be challenging, but assessment of morphologic changes in correlation with the clinical presentation can lead to an accurate diagnosis. These lesions can be classified by their cause: congenital (eg, discoid adrenal gland, horseshoe adrenal gland, and epithelial cysts), vascular and/or traumatic (eg, adrenal hemorrhage), infectious (eg, granulomatous diseases), enzyme deficiency disorders (eg, congenital adrenal hyperplasia [CAH] and Wolman disease), benign neoplasms (eg, pheochromocytomas, ganglioneuromas, adrenal adenomas, and myelolipomas), and adrenal mass mimics (eg, extralobar sequestration and extramedullary hematopoiesis). Multimodality cross-sectional imaging helps to define the origin, extent, and relationship of these lesions to adjacent structures, as well as to guide treatment management. The anatomic and functional imaging modalities used to evaluate pediatric adrenal lesions include ultrasonography, computed tomography (CT), magnetic resonance imaging, and iodine 123 metaiodobenzylguanidine scintigraphy. Identifying the imaging features of nonmalignant adrenal lesions is helpful to distinguish these lesions from malignant adrenal neoplasms. Identifying characteristic imaging findings (eg, enlarged adrenal glands, with cerebriform surface, and stippled echogenicity in CAH; a T2-hyperintense mass with avid contrast enhancement in pheochromocytoma; low CT attenuation [<10 HU] and signal intensity drop on opposed-phase chemical shift images in adenoma; and enhancing suprarenal mass supplied by a systemic feeding artery in extralobar sequestration) can aid in making the correct diagnosis. In addition, clinical features (eg, ambiguous genitalia in CAH and hypertension in pheochromocytoma) can also guide the radiologist toward the correct diagnosis. RSNA, 2017.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171011
[Lr] Last revision date:171011
[St] Status:In-Process
[do] DOI:10.1148/rg.2017170043

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[PMID]: 28888831
[Au] Autor:Korber M; Klein I; Daum G
[Ad] Address:Institute of Biochemistry, Graz University of Technology, NaWi Graz, Austria.
[Ti] Title:Steryl ester synthesis, storage and hydrolysis: A contribution to sterol homeostasis.
[So] Source:Biochim Biophys Acta;1862(12):1534-1545, 2017 Dec.
[Is] ISSN:0006-3002
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract: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.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1709
[Cu] Class update date: 171019
[Lr] Last revision date:171019
[St] Status:In-Data-Review

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[PMID]: 28804516
[Au] Autor:Erwin AL
[Ad] Address:Center for Personalized Genomic Healthcare, Genomic Medicine Institute, Cleveland Clinic, 9500 Euclid Ave, NE-50, Cleveland, OH 44195, USA.
[Ti] Title:The role of sebelipase alfa in the treatment of lysosomal acid lipase deficiency.
[So] Source:Therap Adv Gastroenterol;10(7):553-562, 2017 Jul.
[Is] ISSN:1756-283X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Lysosomal acid lipase deficiency (LALD) is a lysosomal storage disorder (LSD) characterized either by infantile onset with fulminant clinical course and very poor prognosis or childhood/adult-onset disease with an attenuated phenotype. The disorder is often misdiagnosed or remains undiagnosed in children and adults due to a rather unspecific clinical presentation with dyslipidemia and steatohepatitis. Until recently, no good treatment options were available for LALD. Despite supportive and symptomatic therapies, death occurred before 1 year of age in patients with infantile-onset disease and patients with childhood/adult-onset LALD suffered from significant complications, such as liver cirrhosis, requiring liver transplantation and early-onset cardiovascular disease. With the recent approval of sebelipase alfa for clinical use in infantile- as well as childhood/adult-onset LALD, a new treatment era for this disorder has begun. Sebelipase alfa is a recombinant human lysosomal acid lipase (LAL), which is administered the intravenous route. Clinical trials have shown significant improvement of disease parameters such as liver transaminases, hepatomegaly, and dyslipidemia in childhood/adult-onset LALD patients. Treatment of infants with the severe infantile-onset form of the disease has led to improved survival beyond the age of 1 year, and also showed improvement of hepatic and gastrointestinal symptoms, as well as growth. Overall, sebelipase alfa has a favorable safety profile and promises to be a good long-term treatment option for patients with LALD, with significant reduction of disease burden and increased life expectancy.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1708
[Cu] Class update date: 170816
[Lr] Last revision date:170816
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.1177/1756283X17705775

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[PMID]: 28786388
[Au] Autor:Pericleous M; Kelly C; Wang T; Livingstone C; Ala A
[Ad] Address:Department of Gastroenterology and Hepatology, Royal Surrey County Hospital NHS Foundation Trust, Guildford, Surrey, UK; Department of Clinical and Experimental Medicine, University of Surrey, Guildford, Surrey, UK.
[Ti] Title:Wolman's disease and cholesteryl ester storage disorder: the phenotypic spectrum of lysosomal acid lipase deficiency.
[So] Source:Lancet Gastroenterol Hepatol;2(9):670-679, 2017 Sep.
[Is] ISSN:2468-1253
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Lysosomal acid lipase deficiency is a rare, autosomal recessive condition caused by mutations in the gene encoding lysosomal acid lipase (LIPA) that result in reduced or absent activity of this essential enzyme. The severity of the resulting disease depends on the nature of the underlying mutation and magnitude of its effect on enzymatic function. Wolman's disease is a severe disorder that presents during infancy, resulting in failure to thrive, hepatomegaly, and hepatic failure, and an average life expectancy of less than 4 months. Cholesteryl ester storage disorder arises later in life and is less severe, although the two diseases share many common features, including dyslipidaemia and transaminitis. The prevalence of these diseases has been estimated at one in 40 000 to 300 000, but many cases are undiagnosed and unreported, and awareness among clinicians is low. Lysosomal acid lipase deficiency-which can be diagnosed using dry blood spot testing-is often misdiagnosed as non-alcoholic fatty liver disease (NAFLD), non-alcoholic steatohepatitis (NASH), hereditary dyslipidaemia, or cryptogenic cirrhosis. There are no formal guidelines for treatment of these patients, and treatment options are limited. In this Review we appraise the existing literature on Wolman's disease and cholesteryl ester storage disease, and discuss available treatments, including enzyme replacement therapy, oral lipid-lowering therapy, stem-cell transplantation, and liver transplantation.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1708
[Cu] Class update date: 170808
[Lr] Last revision date:170808
[St] Status:In-Data-Review


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