Wolman disease

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Wolman disease2016-11-28T13:39:32+00:00

Wolman disease

METABOLISM

Definition A severe, early onset form (OMIM:278000) of lysosomal acid lipase deficiency, which leads to accumulation of cholesteryl esters and triglycerides in most tissues. It is usually fatal in infancy.

Molecular pathology Defects of LIPA, which encodes lipase A, the lysosomal acid lipase that catalyses cholesteryl ester and triglyceride hydrolysis in lysosomes, cause Wolman  disease. 

Synonyms Acid cholesteryl ester storage disease—Wolman type, cholesterol ester storage disease—acute infantile form, lysosomal acid lipase deficiency, primary familial xanthomatosis with adrenal involvement, Wolman syndrome

References http://www.uniprot.org/uniprot/P38571

http://www.omim.org/entry/278000

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