Xinjing Ge

Case Report: Wolman disease caused by LIPA variants in two Chinese infants and a focused literature synthesis

Background Wolman disease is the severe infantile form of lysosomal acid lipase deficiency, caused by biallelic pathogenic variants in the Lysosomal Acid Lipase (LIPA) gene. It is rapidly progressive and often fatal within the first year of life without disease-specific therapy. Because early manifestations are non-spe...