Santavuori disease

Santavuori disease - a condition associated with mutation(s) in the ppt1 gene, encoding palmitoyl protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.

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‎ Source: Data courtesy of the U.S. National Library of Medicine. Since the data might have changed, please query MeSH on Santavuori disease for any updates.

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