Novel V97G ASAH1 mutation found in Farber disease patients: unique appearance of the disease with an intermediate severity, and marked early involvement of central and peripheral nervous system.

Abstract excerpt

Farber disease is a rare inherited lysosomal storage disorder caused by ceramidase deficiency that leads to accumulation of ceramide in various tissues. Mutations within ASAH1 encoding for acid ceramidase are responsible for the disease. Here we report two siblings with Farber disease who carry a novel V97G with the parents and a sister being asymptomatic carriers. The mutation site was found to be highly...

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