1 / 5

Wolman syndrome

Wolman syndrome. Deepasree Bangaru-Raju BSMS. Synonyms. Wolman's disease Acid Cholesterol Ester Hydrolase Deficiency, Type 2 LIPA Deficiency LAL Deficiency. Pathology.

benson
Télécharger la présentation

Wolman syndrome

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Wolmansyndrome Deepasree Bangaru-Raju BSMS

  2. Synonyms • Wolman's disease • Acid Cholesterol Ester Hydrolase Deficiency, Type 2 • LIPA Deficiency • LAL Deficiency

  3. Pathology • Abramov, Schorr and Wolman in 1956 first described the disease in a child born to closely related Persian Jews. • Rare autosomal recessive deficiency of lysosomal acid lipase activity causing accumulation of cholesterol and triglycerides throughout body tissues and death within first 6 mos)

  4. Genetics • Location: 10q23.2-q23.3

  5. THE END

More Related