LIPA and lysosomal storage disease: Lysosomal acid lipase deficiency (LAL-D; OMIM # 278,000 [1]) is an ultrarare autosomal recessive lysosomal storage disorder caused by pathogenic variants in the LIPA gene (OMIM #613497 [1]), which encodes the lysosomal acid lipase (LAL) enzyme [2, 3].