Inborn errors of metabolism for the human gene encoding this enzyme (LIPA) have been described, including Wolman disease (WOD), resulting from a major defect of the gene which leads to a cholesteryl ester storage disease and loss of life, usually within 1 year of age while a second defect of the human LIPA gene generates a milder late-onset cholesteryl ester storage disease (CESD) (Beaudet et al. 1977; Burton and Reed 1981; Hoeg et al. 1984). Here, LIPA is linked to Wolman disease.