Pfoundler-Hurler Disease

Brief history and causes of Pfeindler–Hurler disease

Anandan Mohan T., Saiyadev N.G.

Pfeindler-Hurle disease is a rare progressive genetic disease characterized by oligoacidemia with impaired sphingolipid metabolism. Described in 1969 by English scientists Jessop Pfinder and Hilda Gorter in their joint work.

Oligophrenia. Clinical manifestations of the disease are determined by the severity of the hereditary pathology of cerebroside metabolism (sphingophos