Acid Lipase Disease

2019 ◽  
Author(s):  
Keyword(s):  
Acid Lipase

Castor-bean acid lipase catalysed hydrolysis of triacylglycerols does not involve C-2 → C-1,3 transacylation

1985 ◽  
Vol 23 (12) ◽  
pp. 3047-3048
Author(s):  
T Diez
Keyword(s):  
Castor Bean ◽  
Acid Lipase ◽  
Hydrolysis Of

Lysosomal Acid Lipase Deficiency: Could Dyslipidemia Drive the Diagnosis?

2018 ◽  
Vol 13 (4) ◽  
pp. 232-242
Author(s):  
Ornella Guardamagna ◽  
Federica Guaraldi
Keyword(s):  
Acid Lipase ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency

scholarly journals Living Donor Liver Transplantation for Late-onset Lysosomal acid lipase deficiency

2021 ◽  
Author(s):  
Somashekara HR ◽  
Mohan Babu Kasala ◽  
Karnan Perumal ◽  
Selvakumar Malleeswaran ◽  
Rajanikanth V. Patcha ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Living Donor ◽  
Living Donor Liver Transplantation ◽  
Late Onset ◽  
Acid Lipase ◽  
Donor Liver ◽  
Lysosomal Acid ◽  
Donor Liver Transplantation ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency

Low levels of Lysosomal Acid Lipase (LAL) activity increases necroinflammation in adult patients with biopsy-proven metabolic associated fatty liver disease

2021 ◽  
Vol 45 (6) ◽  
pp. 101638
Author(s):  
Rutiane Ullmann Thoen ◽  
Larisse Longo ◽  
Santiago Cassales Neto ◽  
Mário Reis Álvares-da-Silva
Keyword(s):  
Liver Disease ◽  
Fatty Liver ◽  
Fatty Liver Disease ◽  
Adult Patients ◽  
Acid Lipase ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Low Levels

scholarly journals Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Suresh Vijay ◽  
Anais Brassier ◽  
Arunabha Ghosh ◽  
Simona Fecarotta ◽  
Florian Abel ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Phase 2 ◽  
Free Hemoglobin ◽  
Acid Lipase ◽  
Short Term ◽  
Open Label ◽  
Lysosomal Acid ◽  
Enzyme Replacement ◽  
Lysosomal Acid Lipase

Abstract Background If symptomatic in infants, the autosomal recessive disease lysosomal acid lipase deficiency (LAL-D; sometimes called Wolman disease or LAL-D/Wolman phenotype) is characterized by complete loss of LAL enzyme activity. This very rare, rapidly progressive form of LAL-D results in severe manifestations leading to failure to thrive and death, usually by 6 months of age. We report results from 2 open-label studies of enzyme replacement therapy with sebelipase alfa, a recombinant human LAL, in infants with LAL-D: the phase 2/3 Survival of LAL-D Infants Treated With Sebelipase Alfa (VITAL) study (NCT01371825) and a phase 2 dose-escalation study (LAL-CL08 [CL08]; NCT02193867). In both, infants received once-weekly intravenous infusions of sebelipase alfa. Results The analysis population contained 19 patients (9 in VITAL; 10 in CL08). Kaplan–Meier estimates of survival to 12 months and 5 years of age were 79% and 68%, respectively, in the combined population, and the median age of surviving patients was 5.2 years in VITAL and 3.2 years in CL08. In both studies, median weight-for-age, length-for-age, and mid-upper arm circumference-for-age z scores increased from baseline to end of study. Decreases in median liver and spleen volume over time were noted in both studies. Short-term transfusion-free hemoglobin normalization was achieved by 100% of patients eligible for assessment in VITAL, in an estimated median (95% confidence interval [CI]) time of 4.6 (0.3–16.6) months. In CL08, short-term transfusion-free hemoglobin normalization was achieved by 70% of patients eligible for assessment, in an estimated median (95% CI) time of 5.5 (3.7–19.6) months. No patient discontinued treatment because of treatment-emergent adverse events. Most infusion-associated reactions (94% in VITAL and 88% in CL08) were mild or moderate in severity. Conclusions The findings of these 2 studies of infants with rapidly progressive LAL-D demonstrated that enzyme replacement therapy with sebelipase alfa prolonged survival with normal psychomotor development, improved growth, hematologic parameters, and liver parameters, and was generally well tolerated, with an acceptable safety profile.

scholarly journals Correction to: Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Suresh Vijay ◽  
Anais Brassier ◽  
Arunabha Ghosh ◽  
Simona Fecarotta ◽  
Florian Abel ◽  
...  
Keyword(s):  
Enzyme Replacement Therapy ◽  
Replacement Therapy ◽  
Acid Lipase ◽  
Open Label ◽  
Term Survival ◽  
Lysosomal Acid ◽  
Enzyme Replacement ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency

An amendment to this paper has been published and can be accessed via the original article.

scholarly journals The Frequency of Lysosomal Acid Lipase Deficiency in Children With Unexplained Liver Disease

2019 ◽  
Vol 68 (3) ◽  
pp. 371-376
Author(s):  
Zarife Kuloglu ◽  
Aydan Kansu ◽  
Suna Selbuz ◽  
Ayhan G. Kalaycı ◽  
Gülseren Şahin ◽  
...  
Keyword(s):  
Liver Disease ◽  
Acid Lipase ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency

P1212 : Impact of sebelipase alfa on survival and liver function in infants with raidly progressive lysosomal acid lipase deficiency

2015 ◽  
Vol 62 ◽  
pp. S811 ◽  
Author(s):  
S. Jones ◽  
D. Plantaz ◽  
R. Vara ◽  
J.J. Gargus ◽  
J. Hughes ◽  
...  
Keyword(s):  
Liver Function ◽  
Acid Lipase ◽  
Lysosomal Acid ◽  
Lysosomal Acid Lipase ◽  
Lysosomal Acid Lipase Deficiency
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