Case Reports in Pediatrics (Jan 2018)
Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum
Abstract
Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality. We present retrospective data from medical records of 5 Brazilian patients, showing the broad clinical spectrum of the disease.