Identification of patients with lysosomal acid lipase deficiency (LAL-D) is critical for the implementation of appropriate genetic counseling in families, according to findings presented at the 91st European Atherosclerosis Society (EAS) Congress held in Mannheim, Germany, and published in the journal Atherosclerosis. It has been well recognized that individuals with LAL-D are often misdiagnosed as…
Global loss of lysosomal acid lipase (LAL), as seen in lysosomal acid lipase deficiency (LAL-D), may cause significant liver proteome alterations in mice as opposed to hepatocyte-specific LAL loss, a study published in the Journal of Lipid Research suggests. The researchers conducted comprehensive proteomic profiling of livers from mice with systemic genetic loss of LAL…
In the Journal of Clinical Lipidology, researchers reported the case of a patient who was initially diagnosed with nonalcoholic fatty liver disease (NAFLD), but further investigations revealed that the correct diagnosis was a more rare disease, lysosomal acid lipase deficiency (LAL-D). When the enzyme LAL is absent or unable to perform its function effectively, aberrant…
A 2-month-old female infant was diagnosed with Wolman disease, a subtype of lysosomal acid lipase deficiency (LAL-D), with the findings published recently in Scholars Journal of Medical Case Reports. Individuals with Wolman disease, a rare hereditary metabolic lipid storage disorder, experience a total deficiency in LAL, which results in the accumulation of triglycerides and cholesteryl…
A possible association between lysosomal acid lipase deficiency (LAL-D)/LAL activity and coronary artery disease (CAD) has been investigated, with the role played by atherosclerosis in individuals with LAL-D warranting elucidation. A prospective, cross-sectional study on the topic was conducted at the Gazi University School of Medicine in Ankara, Turkey, between February 2020 and December 2021.…
GeneDx, a provider of genomic and clinical insights for improved health outcomes, has joined forces with Prognos Health, the largest real-world integrated data marketplace, to expedite the treatment process for patients with rare diseases using real-world data. The strategic partnership aims to offer life science companies a comprehensive, de-identified data set focused on rare diseases,…
Researchers have conducted the first-ever clinico-genetic study on Egyptian patients affected by Wolman disease (WD), shedding new light on this severe subtype of lysosomal acid lipase deficiency (LAL-D). The study revealed 3 homozygous disease-causing variants located in the LIPA gene. One of them was identified as a novel missense variant (NM_000235.4: c.1122 T > G; p. His374Gln)…
The ongoing research into molecular Trojan horse-related approaches holds potential for addressing the complexity of treating lysosomal storage disorders (LSDs), such as lysosomal acid lipase deficiency (LAL-D), and reaching difficult-to-target tissues. By harnessing these innovative delivery systems, researchers aim to improve the effectiveness of therapies and advance medical treatments for LSDs, as recently discussed by experts in…
In patients with lysosomal storage disorders (LSDs) such as lysosomal acid lipase deficiency (LAL-D), using long-range polymerase chain reaction (LR-PCR) amplification for assessment purposes has been shown to be cost-effective, reliable, and easily customizable, according to findings from a molecular study published in the Indian Journal of Medical Research. LSDs comprise a group of genetic…
Researchers in Taiwan estimated the local incidence of lysosomal storage diseases such as lysosomal acid lipase deficiency (LAL-D) using data obtained from the Taiwan Biobank. Their findings are published as a preprint on Research Square. Epidemiological data concerning the spread of lysosomal storage diseases around the globe greatly varies, from as low as 7.5 per…
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