Diagnosis of Hurler's syndrome in the hospital laboratory and the determination of its genetic type.

Abstract

The rare genetically determined disease now known as Hurler's syndrome, characterized by dwarfism, grotesque skeletal deformity, limitation of joint movement, deafness, hepatosplenomegaly, cardiac abnormality, characteristic facies, and perhaps clouding of the cornea and mental retarda- tion (McKusick, 1960), was first described by Hunter (1917). For some years, the substance that accumulates in the tissues in this condition was thought to be a lipid-largely because it disappeared during routine histological processing-and this gave rise to the term lipochondrodystrophy. However, the work of Dorfman and Lorincz (1957) and Meyer, Grumbach, Linker, and Hoffman (1958) showed that mucopolysaccharides were excreted in excess in the urine, and accumulated in the tissues. More recently, Terry and Linker (1964) have shown that the different genetic forms of Hurler's syndrome excrete different patterns of mucopolysaccharide in the urine.