Early Diagnosis of Sanfilippo Syndrome Type C Difficult But Key, Report Shows

An accurate and early diagnosis of Sanfilippo syndrome type C can be difficult, as this subtype is quite rare, but important to prevent life-threatening complications and improve life quality, a case report highlighted. The report, “A Rare case of Sanfilippo syndrome type ‘C’,” and published in the Indian…

Heparan Sulfate Can Collect in Some Patients’ Kidney Cells, Mouse Study Finds

Patients with Sanfilippo syndrome type C may develop an accumulation of heparan sulfate in specialized cells involved in the filtering of molecules within the kidney, among other alterations, a mouse study finds. The study, “HGSNAT Enzyme Deficiency Results in Accumulation of Heparan Sulfate in Podocytes and…