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Lysosomal Acid Lipase Deficiency

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https://www.readbyqxmd.com/read/28343252/erratum-to-managing-cardiovascular-risk-in-lysosomal-acid-lipase-deficiency
#1
James J Maciejko
No abstract text is available yet for this article.
March 25, 2017: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
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
#2
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)...
March 16, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/28320214/progression-of-liver-disease-in-children-and-adults-with-lysosomal-acid-lipase-deficiency
#3
Barbara K Burton, Nancy Silliman, Sachin Marulkar
BACKGROUND AND OBJECTIVE: Manifestations of the autosomal recessive disorder lysosomal acid lipase deficiency (LAL-D) include hepatomegaly, elevated serum liver enzymes, and progressive liver disease. We report an analysis of time to progression from first clinical manifestation to first documentation of hepatic fibrosis, cirrhosis, or liver transplantation from an observational study of pediatric and adult patients with LAL-D (clinical trial registration: NCT01528917). METHODS: Data were analyzed from 31 patients with available biopsy data and 1 patient without biopsy data who had undergone liver transplantation...
March 21, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28285817/update-on-lysosomal-acid-lipase-deficiency-diagnosis-treatment-and-patient-management
#4
Carmen Camarena, Luis J Aldamiz-Echevarria, Begoña Polo, Miguel A Barba Romero, Inmaculada García, Jorge J Cebolla, Emilio Ros
Lysosomal acid lipase deficiency (LALD) is an ultra-rare disease caused by a congenital disorder of the lipid metabolism, characterized by the deposition of cholesterol esters and triglycerides in the organism. In patients with no enzyme function, the disease develops during the perinatal period and is invariably associated with death during the first year of life. In all other cases, the phenotype is heterogeneous, although most patients develop chronic liver diseases and may also develop an early cardiovascular disease...
March 9, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28284702/the-role-of-registries-in-rare-genetic-lipid-disorders-review-and-introduction-of-the-first-global-registry-in-lipoprotein-lipase-deficiency
#5
REVIEW
Elisabeth Steinhagen-Thiessen, Erik Stroes, Handrean Soran, Colin Johnson, Philippe Moulin, Giorgio Iotti, Marco Zibellini, Bas Ossenkoppele, Michaela Dippel, Maurizio R Averna
A good understanding of the natural history of rare genetic lipid disorders is a pre-requisite for successful patient management. Disease registries have been helpful in this regard. Lipoprotein Lipase Deficiency (LPLD) is a rare, autosomal-recessive lipid disorder characterized by severe hypertriglyceridemia and a very high risk for recurrent acute pancreatitis, however, only limited data are available on its natural course. Alipogene tiparvovec (Glybera(®)) is the first gene therapy to receive Marketing Authorization in the European Union; GENIALL (GENetherapy In the MAnagement of Lipoprotein Lipase Deficiency), a 15-year registry focusing on LPLD was launched in 2014 as part of its Risk Management Plan...
August 21, 2016: Atherosclerosis
https://www.readbyqxmd.com/read/28249129/cholesteryl-ester-crystals-in-lysosomal-acid-lipase-deficiency
#6
Vladimir Ivashkin, Maria Zharkova
An 18-year-old woman presented with persistently elevated aminotransferase levels after varicella infection. She was taking no medications and did not drink alcohol. Physical examination revealed a low body-mass index (the weight in kilograms divided by the square of the height in meters) of 18, a..
March 2, 2017: New England Journal of Medicine
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
#7
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
#8
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...
February 14, 2017: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/28179030/survival-in-infants-treated-with-sebelipase-alfa-for-lysosomal-acid-lipase-deficiency-an-open-label-multicenter-dose-escalation-study
#9
Simon A Jones, Sandra Rojas-Caro, Anthony G Quinn, Mark Friedman, Sachin Marulkar, Fatih Ezgu, Osama Zaki, J Jay Gargus, Joanne Hughes, Dominique Plantaz, Roshni Vara, Stephen Eckert, Jean-Baptiste Arnoux, Anais Brassier, Kim-Hanh Le Quan Sang, Vassili Valayannopoulos
BACKGROUND: Infants presenting with lysosomal acid lipase deficiency have marked failure to thrive, diarrhea, massive hepatosplenomegaly, anemia, rapidly progressive liver disease, and death typically in the first 6 months of life; the only available potential treatment has been hematopoietic stem cell transplantation, which is associated with high morbidity and mortality in this population. The study objective was to evaluate safety and efficacy (including survival) of enzyme replacement with sebelipase alfa in infants with lysosomal acid lipase deficiency...
February 8, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27981432/the-size-matters-regulation-of-lipid-storage-by-lipid-droplet-dynamics
#10
REVIEW
Jinhai Yu, Peng Li
Adequate energy storage is essential for sustaining healthy life. Lipid droplet (LD) is the subcellular organelle that stores energy in the form of neutral lipids and releases fatty acids under energy deficient conditions. Energy storage capacity of LDs is primarily dependent on the sizes of LDs. Enlargement and growth of LDs is controlled by two molecular pathways: neutral lipid synthesis and atypical LD fusion. Shrinkage of LDs is mediated by the degradation of neutral lipids under energy demanding conditions and is controlled by neutral cytosolic lipases and lysosomal acidic lipases...
January 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/27941191/diagnostic-and-therapeutic-management-of-children-with-lysosomal-acid-lipase-deficiency-lal-d-review-of-the-literature-and-own-experience
#11
Aldona Wierzbicka-Rucińska, Wojciech Jańczyk, Agnieszka Ługowska, Dariusz Lebensztejn, Piotr Socha
Lysosomal acid lipase deficiency may present at any age (in infants, children and adults). Its presenting features commonly include elevated serum transaminase activity levels, hypercholesterolemia, fatty liver, progressive liver fibrosis, and cirrhosis. Nonspecific clinical manifestations can lead to a delay in the diagnosis of both children and adults. The early development of fibrosis and cirrhosis suggests that the lysosomal accumulation of cholesterol esters and triglycerides in the liver is a potent inducer of fibrosis...
2016: Developmental Period Medicine
https://www.readbyqxmd.com/read/27878737/sebelipase-alfa-a-review-in-lysosomal-acid-lipase-deficiency
#12
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/27876313/lysosomal-acid-lipase-deficiency-expanding-differential-diagnosis
#13
Vassili Valayannopoulos, Eugen Mengel, Anais Brassier, Gregory Grabowski
The differential diagnoses for metabolic liver diseases may be challenging in clinical settings, which represents a critical issue for disorders such as lysosomal acid lipase deficiency (LAL-D). LAL-D is caused by deficient activity of the LAL enzyme, resulting in the accumulation of cholesteryl esters and triglycerides throughout the body, predominately in the liver, spleen, gastrointestinal tract, and blood vessel walls. LAL-D is a progressive, multi-organ disease with early mortality and significant morbidity characterized by a combination of hepatic dysfunction and dyslipidemia...
January 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27799810/novel-treatment-options-for-lysosomal-acid-lipase-deficiency-critical-appraisal-of-sebelipase-alfa
#14
REVIEW
Kim Su, Emma Donaldson, Reena Sharma
Lysosomal acid lipase deficiency (LAL-D) is a rare disorder of cholesterol metabolism with an autosomal recessive mode of inheritance. The absence or deficiency of the LAL enzyme gives rise to pathological accumulation of cholesterol esters in various tissues. A severe LAL-D phenotype manifesting in infancy is associated with adrenal calcification and liver and gastrointestinal involvement with characteristic early mortality. LAL-D presenting in childhood and adulthood is associated with hepatomegaly, liver fibrosis, cirrhosis, and premature atherosclerosis...
2016: Application of Clinical Genetics
https://www.readbyqxmd.com/read/27649344/sebelipase-alfa-kanuma-for-lysosomal-acid-lipase-deficiency
#15
REVIEW
(no author information available yet)
No abstract text is available yet for this article.
September 26, 2016: Medical Letter on Drugs and Therapeutics
https://www.readbyqxmd.com/read/27624512/lysosomal-acid-lipase-deficiency-unmasked-in-two-children-with-nonalcoholic-fatty-liver-disease
#16
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/27531897/lysosomal-acid-lipase-in-mesenchymal-stem-cell-stimulation-of-tumor-growth-and-metastasis
#17
Ting Zhao, Cong Yan, Hong Du
Bone marrow mesenchymal stem cells (MSCs) are an important participant in the tumor microenvironment, in which they promote tumor growth and progression. Here we report for the first time that depletion of lysosomal acid lipase (LAL) in MSCs impairs their abilities to stimulate tumor growth and metastasis both in allogeneic and syngeneic mouse models. Reduced cell viability was observed in LAL-deficient (lal-/-) MSCs, which was a result of both increased apoptosis and decreased proliferation due to cell cycle arrest...
September 20, 2016: Oncotarget
https://www.readbyqxmd.com/read/27499717/management-of-lysosomal-acid-lipase-deficiency-for-the-gastroenterologist-and-hepatologist
#18
Stephen A Harrison
No abstract text is available yet for this article.
May 2016: Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/27461363/lung-epithelial-cell-specific-expression-of-human-lysosomal-acid-lipase-ameliorates-lung-inflammation-and-tumor-metastasis-in-lipa-mice
#19
Ting Zhao, Xinchun Ding, Hong Du, Cong Yan
Lysosomal acid lipase (LAL), a key enzyme in the metabolic pathway of neutral lipids, has a close connection with inflammation and tumor progression. One major manifestation in LAL-deficient (Lipa(-/-)) mice is an increase of tumor growth and metastasis associated with expansion of myeloid-derived suppressor cells. In the lung, LAL is highly expressed in alveolar type II epithelial cells. To assess how LAL in lung epithelial cells plays a role in this inflammation-related pathogenic process, lung alveolar type II epithelial cell-specific expression of human LAL (hLAL) in Lipa(-/-) mice was established by crossbreeding of CCSP-driven rtTA transgene and (TetO)7-CMV-hLAL transgene into Lipa(-/-) mice (CCSP-Tg/KO)...
August 2016: American Journal of Pathology
https://www.readbyqxmd.com/read/27423329/sequencing-for-lipa-mutations-in-patients-with-a-clinical-diagnosis-of-familial-hypercholesterolemia
#20
Barbara Sjouke, Joep C Defesche, Janine S E de Randamie, Albert Wiegman, Sigrid W Fouchier, G Kees Hovingh
BACKGROUND AND AIMS: We recently identified lysosomal acid lipase (LAL) deficiency, a recessive disease caused by mutations in LIPA, in 3 patients with a clinical diagnosis of familial hypercholesterolemia (FH). We aimed to determine the prevalence of LIPA mutations among individuals with a clinical FH diagnosis. METHODS: In 276 patients with phenotypic FH, in whom no genetic basis for their phenotype was found, LIPA was sequenced. All variants were assessed for pathogenicity using a literature search and in silico prediction models...
August 2016: Atherosclerosis
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