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April 1969

Biological Behavior of Lymphocytes in Hunter-Hurler's Disease

Author Affiliations

Bethesda, Md
From the Section on Child Neurology, Surgical Neurology Branch, National Institute of Neurological Diseases and Blindness, National Institute of Health, Bethesda, Md. Dr. Zelson is now at Yale New Haven Hospital, New Haven, Conn.

Arch Neurol. 1969;20(4):358-361. doi:10.1001/archneur.1969.00480100034004

HUNTER-HURLER'S disease is an born error of metabolism characterized by excessive deposition of acid mucopolysaccharides (chondroitin sulfate B and heparitin sulfate) in the liver, spleen, skin, and other organs whereas the nerve cells accumulate an abnormal amount of ganglioside containing lipids.1,2 The main clinical features consist of dwarfism, hepatosplenomegaly, bone and joint deformities, mental and physical deterioration, corneal clouding and abnormal and coarse facial features: bushy eyebrows, sunken and upturned nose, thick lips, and hirsutism. The onset is commonly between a few months and 5 years of age and these patients rarely survive past the age of adolescence. Dorfman and Lorincz3 and subsequently many others demonstrated that the affected children excrete an excessive amount of acid mucopolysaccharide (AMPS) in their urine, while Danes and Bearn4 and Matalon and Dorfman5 showed that skin fibroblasts from these patients grown in tissue culture accumulate a large quantity of

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