Severe and rapid disease course in the natural history of infants with lysosomal acid lipase deficiency

Jones, Simon A.; Bernstein, D.; Bialer, Martin G.; Dhawan, Anil; Hendriksz, Chris; Whitley, Chester B.; Banikazemi, Maryam; Chan, Alicia; Guardamagna, Ornella; Raiman, Julian; Gamal, Iman; Selim, Laila; Cederbaum, Stephen D.; Rocco, Maja Di; Domm, Jennifer; Enns, Gregory M.; Finegold, David N.; Gargus, J. Jay; Zaki, Osama K.; Eckert, Stephen; Schneider, Eugene; Quinn, Anthony G.; Valayannopoulos, Vassili

doi:10.1016/j.ymgme.2013.12.125

Cited by 8 publications

(9 citation statements)

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“…3,4,6,12 In turn, liver transplantation is the treatment indicated for liver failure, and should be performed in conjunction with bone marrow transplant bone due to the risk of disease recurrence. So far, follow-up of these patients does not allow drawing conclusions on the efficacy of this intervention in LAL-D. 2,6,36,38,39 Enzyme replacement therapy is currently used, which seeks to restore physiological levels of the enzyme and thus prevent the accumulation of cholesterol and triglyceride esters by delaying disease progression. 4,12 Replacement can be carried out with recombinant human lysosomal acid lipase (rhLAL) enzyme or recombinant sebelipase-alfa (Kanuma ® , Alexion Pharmaceuticals), a glycoprotein that contains 378 53-55-kDa amino acids, six N-linked glycosylation sites and is extracted from chicken eggs.…”

Section: Treatmentmentioning

confidence: 99%

Lysosomal acid lipase deficiency, a rare pathology

Gómez-Duarte¹,

García²,

Botero³

et al. 2023

GMM

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vessels, the spleen, adrenal glands, hematopoietic system, lymph nodes and gastrointestinal tract. In addition, it is associated with reduced generation of free cholesterol and free fatty acids. 1,[3][4][5][6][7][8][9][10] The decrease in free cholesterol translates into sterol regulatory elements and HMG-CoA increased activity, with a corresponding increase in free cholesterol and free fatty acids synthesis. 4,11 On the other hand, there is an

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Section: Treatmentmentioning

confidence: 99%

Lysosomal acid lipase deficiency, a rare pathology

Gómez-Duarte¹,

García²,

Botero³

et al. 2023

GMM

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“…3,4,6,12 Por su parte, el trasplante hepático es el tratamiento indicado para la falla hepática, debe realizarse en conjunto con el trasplante de médula ósea debido al riesgo de recurrencia de la enfermedad. Hasta el momento, el seguimiento de estos pacientes no permite obtener conclusiones sobre la eficacia de esta intervención en la LAL-D. 2,6,36,38,39 Actualmente se emplea la sustitución enzimática, con la que se busca restablecer los niveles fisiológicos de la enzima para así prevenir la acumulación de esteres de colesterol y triglicéridos al retrasar la progresión de la enfermedad. 4,12 Se puede realizar la reposición con enzima recombinante de lipasa ácida lisosomal humana (rhLAL) o sebelipasa alfa recombinante (Kanuma ® , Alexion Pharmaceuticals), glicoproteína que contiene 378 aminoácidos de 53-55 kDa, seis sitios de glucosilación ligados-N y es extraída de huevos de gallinas.…”

Section: Diagnósticounclassified

Deficiencia de lipasa ácida lisosomal, una patología infrecuente

Gómez-Duarte

García

Botero

et al. 2019

GMM

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El déficit de lipasa ácida lisosomal es una enfermedad genética poco prevalente, con alta morbimortalidad en niños y adultos. Se caracteriza por alteración del metabolismo lipídico que genera depósitos de ésteres de colesterol y triglicéridos en el organismo. La presentación clínica depende de la actividad enzimática. Se debe sospechar en pacientes con alteraciones lipídicas o alteraciones hepáticas después de descartar otros diagnósticos. Actualmente existe la opción de utilizar enzima recombinante, la cual puede mejorar los parámetros lipídicos y hepáticos, así como detener la progresión de la enfermedad. Es imperioso realizar el diagnóstico oportuno para iniciar de forma temprana el tratamiento específico, con el fin de prevenir la morbimortalidad. Se llevó a cabo revisión de la literatura en torno del déficit de lipasa ácida lisosomal, para orientar acerca de su fisiopatología, manifestaciones clínicas, diagnóstico y tratamiento.

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“…Лизосомная кислая липаза ответственна за гидролиз холестериновых эфиров, триглицеридов и липопротеинов низкой плотности в свободный холестерин и жирные кислоты [59]. Дефицит лизосомной кислой липазы -редкое аутосомно-рецессивное заболевание, связанное с изменениями в гене LIPA, приводящими к резкому снижению активности фермента [60]. При этом возраст начала заболевания и темпы его прогрессирования вариабельны.…”

Section: метаболизм липидов в печениunclassified

Genetic Aspects of Non-Alcoholic Fatty Liver Disease

Богомолов

Кокина

Майоров

et al. 2019

Vopr. sovr. pediatr.

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Non-alcoholic fatty liver disease (NAFLD) is the most commonly diagnosed hepatopathy. There is an increase in the incidence of NAFLD in the structure of liver diseases in children and adolescents, which is directly related to the increasing prevalence of obesity. The spectrum of liver tissue changes in NAFLD ranges from benign hepatocellular steatosis to non-alcoholic steatohepatitis (NASH), fibrosis, cirrhosis of the liver, and hepatocellular carcinoma. With the increasing prevalence of NAFLD in children, we can expect an increase in the incidence of adverse outcomes among people of working age. The key problem for NAFLD is the prediction of disease outcomes. In epidemiological and genetic studies, the relationship between the morphological stage of NAFLD and hereditary factors is shown. Currently, there are three genes associated with NAFLD (PNPLA3, TM6SF2, and GCKR), which, together with the genes responsible for insulin resistance, lipid deposition, inflammation and fibrogenesis in hepatocytes, determine the phenotype of fatty liver disease. The article considers the modern understanding of the issues of genetics, development of liver steatosis and progression of NASH. It is expected that this knowledge can transform our risk stratification strategies in patients with NAFLD and help identify new therapeutic goals.

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Severe and rapid disease course in the natural history of infants with lysosomal acid lipase deficiency

Cited by 8 publications

References 0 publications

Lysosomal acid lipase deficiency, a rare pathology

Lysosomal acid lipase deficiency, a rare pathology

Deficiencia de lipasa ácida lisosomal, una patología infrecuente

Genetic Aspects of Non-Alcoholic Fatty Liver Disease

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