Abstract

Lysosomal acid lipase deficiency is an orphan autosomal recessive disease associated with the presence of mutations in the LIPA gene. Clinical manifestations of lysosomal acid lipase deficiency come in two main forms: Wolman’s disease and cholesterol ester storage disease. The article presents current information about the disease, describes the most characteristic clinical and laboratory signs, features of enzyme replacement therapy, outcomes and prognosis of the disease in children. The article also provides its own clinical observation of the family case of cholesterol ester storage disease in brothers.

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call

Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.