Gastroenterology

Mild form of lysosomal acid lipase deficiency mimics NAFLD



Prevalence screening for lysosomal acid lipase deficiency and its mild form that can mimic nonalcoholic fatty liver disease showed that it is an “ultra-rare” disorder but may warrant investigation in second-line metabolic screening.
“Lysosomal acid lipase deficiency (LAL-D) is an autosomal recessive disorder caused by mutations in LIPA that manifest as a spectrum of liver disease and dyslipidemia,” Anna Carter, from the Manchester University Foundation Trust, and colleagues wrote. “It is regarded as a rare disorder however recognition of more mild forms of the

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