<unk>  affects multiple organ systems. Children with Hurler syndrome (severe<unk>  may appear normal at birth and develop symptoms over the first years of life. Developmental delay may become apparent by age 1-2 years, with a maximum functional age of 2-4 years. Progressive deterioration follows. One of the first abnormalities that may be detected is coarsening of the facial features; these symptoms can begin at 3-6 months of age. Skeletal abnormalities occur by about age 6 months, but may not be clinically obvious until 10-14 months. Patients may experience debilitating spine and hip deformities, carpal tunnel syndrome, and joint stiffness. Patients may be normal height in infancy, but stop growing by the age of 2 years. They may not reach a height of greater than 4 feet. Other early symptoms may include inguinal and umbilical hernias. Clouding of the cornea and retinal degeneration may lead to blindness. The liver and spleen may be enlarged due to the deposition of GAGs. Aortic valve disease may occur. Upper and lower respiratory-tract infections can be frequent. Most children develop limited language capabilities. Death usually occurs by age 10. In less severe cases, (Scheie syndrome, or attenuated<unk> , the presentation can vary considerably. Although symptoms generally begin to appear after age 5, the diagnosis is usually made after age 10. Intelligence may be normal, or mild learning disabilities may be present. As with the severe forms, visual problems may lead to blindness. Skeletal deformities and aortic valve disease may occur. These patients may live into adulthood.
Mucopolysaccharidosis type I
GM1 gangliosidoses
GM2 gangliosidoses
GM2-gangliosidosis, AB variant
Glycogen storage disease type V
Glycogen storage disease type I
Glycogen storage disease type VI
Glycogen storage disease type 0