LAL-D News Briefs

fatty liver

LAL-D May Contribute to the Development of Atherosclerosis and Fatty Liver Disease

Researchers have proposed that lysosomal acid lipase deficiency (LAL-D) may contribute to the development of atherosclerosis and fatty liver disease, according to a review article published in Frontiers in Genetics. Lysosomal acid lipase (LAL) plays an important role in the hydrolysis of cholesteryl esters. In addition, it cleaves stored cholesteryl esters delivered to lysosomes for…

Hepatocellular carcinoma

Patients With LAL-D May Be at an Increased Risk of Hepatocellular Carcinoma

Delaying treatment in patients with lysosomal acid lipase deficiency (LAL-D) may put them at a higher risk of developing liver cancer, according to a study recently published in Medicine. “It is possible that the use of sebelipase alfa can reduce the incidence of neoplasms in affected patients, therefore untreated individuals should be considered at a…

microtiter plate

New Assay Can Identify Patients With Lysosomal Acid Lipase Deficiency

The liquid chromatography-tandem mass spectrometry (LC-MS/MS) assay can identify patients with lysosomal acid lipase deficiency (LAL-D), according to the results of a new study published in Molecular Genetics and Metabolism Reports. Due to the robustness of the technique, it can be used and should be implemented for newborn screening, the authors of the study say. …

dna sequencing

NGS Detects Structural Variants in Diseases Including LAL-D and Pompe Disease

Next-generation sequencing (NGS) may be a useful tool for the detection and diagnosis of lysosomal storage diseases (LSDs) including lysosomal acid lipase deficiency (LAL-D) and Pompe disease. According to a review article published in Biomedicines, as NGS technologies advance and become more available, they offer faster, cheaper, and higher-resolution testing options to identify point mutations,…

baby girl

Infantile Hepatosplenomegaly in LAL-D: A Case Report

Metabolic diseases, such as lysosomal acid lipase deficiency (LAL-D), should be considered in the differential diagnosis of hepatosplenomegaly in infants, according to a recently published case report in the American Journal of Medical Genetics. The differential diagnosis for infantile hepatosplenomegaly is very broad, including malignant, infectious, hematologic, and metabolic causes. However, many metabolic diseases, such as…

NORD banners

Rare Disease Patients and Advocate to Headline NORD Conference in October

Two rare disease patients and a rare disease advocate will be the keynote speakers at the National Organization for Rare Disorders (NORD) 2022 annual rare disease conference, being held at the Marriott Marquis in Washington, DC, on October 17 and 18, 2022.   NORD announced the keynote speakers as Brittany Clayborne, MS, PsyD, a post-transplant…

genetic testing

New Next-Generation Sequencing Test Launched for Lipid Disorders Such as LAL-D

Boston Heart Diagnostics announced the launch of Lipidseq™, a saliva-based next-generation sequencing (NGS) test for genetic disorders of lipid metabolism such as lysosomal acid lipase deficiency (LAL-D). The announcement says the testing can be performed at any age, facilitating prompt diagnoses and treatment for genetically based lipid and lipoprotein disorders. This new 23-gene saliva test…

Chromosome DNA

Single-Dose Gene Therapy Could Be Potentially Curative for LAL-D

Gene therapy could become a therapeutic, and possibly curative, option for patients with lysosomal acid lipase deficiency (LAL-D), according to a study recently published in Molecular Therapy – Methods & Clinical Development. “Intravenous injection of rscAAVrh74.miniCMV.LIPA largely corrected many of the phenotypes of LAL-D in a Lipa-/- mouse model, including hepatosplenomegaly, elevated serum transaminases, reduced…

globe and charts on tablet

The Feasibility of Screening for LAL-D in At-Risk Populations

In lysosomal acid lipase deficiency (LAL-D), the activity of the lysosomal acid lipase enzyme is substantially reduced. This causes an accumulation of cholesteryl esters and triglycerides within the lysosomes of various organs, primarily the liver, spleen, and heart.  The pathological accumulation of lipids in these organs drives various cellular damages. Splenomegaly can occur as lipids…

Cholesterol Detect

Universal Familial Hypercholesterolemia Screening Effective for LAL-D

Universal familial hypercholesterolemia screening can effectively identify patients affected by other rare dyslipidemia such as lysosomal acid lipase deficiency (LAL-D), according to a new study published in Frontiers in Genetics. This is important because identifying and treating patients with LAL-D early can help prevent long-term complications. In the present study, a team of researchers led…

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