Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The dosage of serum lysosomal acid lipase was undetectable and we found the presence of a rare homozygous mutation in the gene associated with the lysosomal acid lipase deficiency, (allele c.386A > G homozygous p.H129R).
|
31113597 |
2020 |
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disease caused by mutations in the LIPA gene, located on the long arm of chromosome 10 (10q23.31).
|
31182375 |
2020 |
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The commonest genetic cause of cholesteryl ester storage disease is an exon 8 splice junction variant in the LIPA gene (rs116928232, c.894G>A; E8SJM) previously found to have an allele frequency of 0.0011 (1 in 450 individuals) in a large European population.
|
30056760 |
2019 |
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Meta-analysis of existing genetic studies estimated the prevalence of LAL-D as 1 per 160,000 (95% CI 1 per 65,025-761,652) using the allele frequency of c.894G>A in LIPA.
|
30315827 |
2019 |
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.
|
31180157 |
2019 |
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We identified two LALD patients (one homozygous and one compound heterozygous) and one carrier of a novel LIPA variant.
|
31004967 |
2019 |
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In humans, loss-of-function mutations of LIPA cause rare lysosomal disorders, Wolman disease and cholesteryl ester storage disease, in which LAL enzyme-replacement therapy has shown significant benefits in a phase 3 clinical trial.
|
30866656 |
2019 |
Wolman Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
LAL activity (nmol/punch/h) was measured using the dried blood spot method and classified as LAL-D (<0.02), intermediate (0.02-0.37) or normal (> 0.37).
|
30540705 |
2019 |
Wolman Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Rapidly progressive LAL deficient patients showed negligible enzymatic activity (<1%), whereas patients with childhood/adult LAL deficiency typically have 1-7% average activity.
|
31180157 |
2019 |
Wolman Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
LAL activity in WBC is a validated tool for LAL-D diagnosis.
|
30684275 |
2019 |
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Presently, a long-term enzyme replacement therapy with Sebelipase alfa, a recombinant human lysosomal acid lipase, is available for patients with LALD.
|
31249784 |
2019 |
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency.
|
31230978 |
2019 |
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
CLINVAR |
Lysosomal acid lipase deficiency in all siblings of the same parents.
|
28502515 |
2018 |
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients usually present with dyslipidemia and altered liver function and mutations in LIPA gene are the underlying cause of LALD.
|
28502505 |
2018 |
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
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.
|
29358478 |
2018 |
Wolman Disease
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
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).
|
29339442 |
2018 |
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
The essential role of LAL in lipid metabolism has been confirmed in human and mice with LAL deficiency.
|
29547398 |
2018 |
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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).
|
29246491 |
2018 |
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This study provides additional data on the features of childhood-onset LAL-D and describes two novel pathogenic variants of the LIPA gene.
|
28881270 |
2017 |
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An infant, was referred to us with suspected infant leukemia and was subsequently diagnosed to have lysosomal acid lipase deficiency/Wolman disease with a novel 5 bp deletion "c.1180_1184del" in the last exon (exon 10) of the lipase A (LIPA) gene.
|
28538091 |
2017 |
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
In 2015, regulatory agencies approved the use of a human recombinant LAL for the treatment of LALD.
|
28285817 |
2017 |
Wolman Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
LAL-D presents as a clinical continuum with two phenotypes: the infantile-onset phenotype, formally referred to as Wolman disease, and the later-onset phenotype, formerly referred to as cholesteryl ester storage disease.
|
28197978 |
2017 |
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
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).
|
28322747 |
2017 |
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Wolman disease (WD) is a rare lysosomal storage disorder that is caused by mutations in the LIPA gene encoding lysosomal acid lipase (LAL).
|
28659158 |
2017 |
Wolman Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sebelipase alfa (Kanuma<sup>®</sup>, 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.
|
27878737 |
2016 |