Lipochondrodystrophy

• Other names - (Hurler's Syndrome; Pfaundler-Hurler Syndrome; Lipochondrodystrophy; Hurler-Scheie Syndrome; Mucopolysaccharidosis V; Scheie's Syndrome)
• Multiple congenital defects affecting lipid (fat) metabolism, cartilage and bone, skin, and the major internal organs, leading to mental retardation, dwarfism, and deformities of the bones.
• Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (iduronidase) and characterized by progressive physical deterioration with urinary excretion of dermatan sulfate and HEPARAN SULFATE.