A “mild” form of lysosomal acid lipase deficiency (LAL-D) may exist and could play a role in the pathogenesis of nonalcoholic fatty liver disease (NAFLD), according to a new study published in the journal Pharmacology Research and Perspective. This “mild” form may be associated with the single nucleotide polymorphism (SNP) rs1051338 in the lysosomal acid…
The US public health system should prioritize rare diseases in the same way it has with COVID-19, said Christopher Austin, MD, founding director of the National Center for Advancing Translational Science (NCATS), a division of the National Institutes of Health (NIH). He said that as director of NCATS when the pandemic hit in early 2020,…
The molecular signature of cholesterol homeostasis in the central nervous system of lysosomal acid lipase (LAL)-knockout mice (Lal-/-) is similar to that of their matching Lal+/+ controls, according to a study recently published in Lipids journal. The LAL deficiency (LAL-D) disorders share the same underlying molecular pathology and are considered early-onset and late-onset versions of…
Feeding a Western-type high-calorie diet to a mouse model of lysosomal acid lipase deficiency (LAL-D) triggered metabolic reprogramming that modulated the homeostasis of gut-liver cholesterol, a new study published in Cells revealed. This resulted in altered bile acid composition, significant changes in the gut microbiome, reduced absorption of nutrients, and increased fecal lipid excretion. These…
Lysosomal acid lipase deficiency (LAL-D) begins affecting fetuses in utero and quickly exacerbates after birth, according to results published in the International Journal of Molecular Sciences. The study, performed in Lal knockout (Lal-/-) mice, showed that LAL-D alters lipid homeostasis in the placenta and unborn fetuses. The altered lipid homeostasis resulted in cholesteryl esters (CE)…
It may be worthwhile to investigate lysosomal acid lipase deficiency (LAL-D) in patients with chronic liver disease of unknown etiology, according to a new study in the journal Annals of Hepatology. Even though LAL-D is rare, researchers from the University of São Paulo School of Medicine in Brazil completed a multicenter cross-sectional study and followed…
Genomenon, a genomics company, and the pharmaceutical company Alexion will be collaborating to produce a complete “Genomic Landscape” for rare diseases including lysosomal acid lipase deficiency (LAL-D). The genetic datasets, which will include information about therapies and clinical trials, will be made available to doctors, researchers, and other clinicians through a specialized genomic search engine…
Israeli researchers have discovered that despite coronavirus disease 2019 (COVID-19) restrictions in Israel and the complexity of care for lysosomal storage disorders (LSDs) such as lysosomal acid lipase deficiency (LAL-D) and Pompe disease, high rates of treatment adherence and low morbidity have been maintained among LSD patients, according to a study published in the Orphanet…
Vomiting, diarrhea, jaundice, and splenomegaly may serve as a starting point to investigate lysosomal acid lipase deficiency (LAL-D), according to a new study by Brazilian researchers. LAL-D is a rare autosomal recessive disease that is underdiagnosed. It may develop at any time from infancy to adulthood. Because the start of treatment can have a big…
A panel of experts at the National Organization for Rare Disorders (NORD) virtual Patient and Family Forum outlined what they see as the most impactful breakthroughs in the field of rare diseases, ranging from the completion of the human genome and the availability of next-generation sequencing in the clinic to genome editing and its use…
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