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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