LAL-D Insights

Lessons From a Case Study of Wolman Disease

Wolman disease is a rare autosomal recessive disorder that results in the complete functional loss of the acid lipase enzyme. Hence, it is a part of lysosomal acid lipase deficiency (LAL-D). Infants with this disease typically present with a few key features: failure to thrive, vomiting, abdominal distension, steatorrhea, and hepatosplenomegaly. It is an exceedingly…

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The Challenges of Investigating Hypercholesterolemia

Hypercholesterolemia is a tricky disease to manage, not least because there is still debate about the threshold at which active intervention is needed. This is especially true when the lipid profile is only slightly elevated. We know that high cholesterol levels can eventually lead to health conditions such as cardiovascular disease, but how much attention…

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New Questions in Lysosomal Acid Lipase Deficiency

Albert Einstein is credited with saying “We cannot solve problems with the same thinking we used to create them.” It is this spirit of taking risks, asking difficult questions, and breaking away from outdated paradigms that have been instrumental in moving medicine forward. In fact, the process of “question-asking” is enshrined in the scientific method:…

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