Sulfatidosis

Sulfatidosis

Engelsk definition

A group of inherited metabolic disorders characterized by the intralysosomal accumulation of sulfur-containing lipids (SULFATIDES), including SULFOGLYCOSPHINGOLIPIDS normally found in the MYELIN SHEATH of the brain. These disorders are caused by defective degradative enzymes leading to substrate accumulation (or storage).

Svenska synonymer

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Engelska synonymer

Sulfatidoses