|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
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 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
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 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We identified two LALD patients (one homozygous and one compound heterozygous) and one carrier of a novel LIPA variant.
|
31004967 |
2019 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
LAL activity in WBC is a validated tool for LAL-D diagnosis.
|
30684275 |
2019 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency.
|
31230978 |
2019 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
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 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
Biomarker
|
disease |
BEFREE |
The essential role of LAL in lipid metabolism has been confirmed in mice and human with LAL deficiency.
|
30866656 |
2019 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
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 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
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 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
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 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
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 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
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 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
Biomarker
|
disease |
BEFREE |
The essential role of LAL in lipid metabolism has been confirmed in human and mice with LAL deficiency.
|
29547398 |
2018 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
Biomarker
|
disease |
BEFREE |
Treatment of LAL-D with sebelipase alfa (LAL replacement enzyme) should be considered as the standard of treatment in all individuals diagnosed with LAL-D. Other ASCVD risk factors that may be present (hypertension, tobacco use, diabetes mellitus, etc.) should be managed appropriately, consistent with secondary prevention goals.
|
28197978 |
2017 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
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 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
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 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
Biomarker
|
disease |
BEFREE |
In 2015, regulatory agencies approved the use of a human recombinant LAL for the treatment of LALD.
|
28285817 |
2017 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Our data show that LAL deficiency was not missed as diagnosis in our study population but the frequency of heterozygous LIPA mutations implies that the FH population might be relatively enriched with LIPA mutation carriers.
|
27423329 |
2016 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
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 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
LAL deficiency (LAL D) presents and progresses as a continuum with dyslipidemia, hepatomegaly, and liver fibrosis.
|
26350820 |
2016 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.
|
25624737 |
2015 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Isolated fetal ascites caused by Wolman disease.
|
12666227 |
2003 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To identify the molecular basis of the different phenotypes we have characterised the LAL gene mutations in three new patients with LAL deficiency.
|
9684740 |
1998 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.
|
8254026 |
1993 |
|
Acid cholesteryl ester hydrolase deficiency, type 2
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|