Mucopolysaccharidosis VII

Mukopolysackaridos VII

Svensk definition

Mukopolysackaridos kännetecknad av onormalt höga halter av dermatan- och heparansulfat i urinen, och Hurlerliknande drag. Sjukdomen beror på brist på beta-glukuronidas (EC 3.2.1.31).

Engelsk definition

Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.

Svenska synonymer

Slys syndrom

Engelska synonymer

Mucopolysaccharidosis VIIs VIIs, Mucopolysaccharidosis Sly Disease Disease, Sly beta-Glucuronidase Deficiency Deficiencies, beta-Glucuronidase Deficiency, beta-Glucuronidase beta Glucuronidase Deficiency beta-Glucuronidase Deficiencies GUSB Deficiency Deficiencies, GUSB Deficiency, GUSB GUSB Deficiencies Mucopolysaccharidosis Type VII Mucopolysaccharidosis Type VIIs Type VII, Mucopolysaccharidosis Type VIIs, Mucopolysaccharidosis Mucopolysaccharidosis 7 Sly Syndrome Syndrome, Sly