ASAH1-related sphingolipidosis

ASAH1-related sphingolipidosis is a spectrum of disorders linked to changes in the ASAH1 gene. This gene makes an enzyme known as acid ceramidase, which helps break down a fat-like substance called ceramide. Problems with this enzyme can lead to issues in how the body handles ceramide, causing a range of disorders. This spectrum includes conditions such as Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy. The severity and symptoms can vary among people with these disorders. The complexity of the condition is rooted in genetic differences affecting enzyme function.

Information about symptoms is currently limited for this condition.

This condition is caused by variations in the ASAH1 gene, which encodes acid ceramidase, an enzyme needed to break down the lipid ceramide. When the gene does not function correctly due to genetic changes, it can lead to a build-up of ceramide and result in disorders such as Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.