mucopolysaccharidosis (redirected from Mucopolysaccharidosis type I Scheie syndrome)

mucopolysaccharidosis /mu·co·pol·y·sac·cha·ri·do·sis/ (-sak?ah-ri-do´sis) pl. mucopolysaccharido´ses   any of a group of lysosomal storage disorders due to defective metabolism of glycosaminoglycans, causing their accumulation and excretion and affecting the bony skeleton, joints, liver, spleen, eye, ear, skin, teeth, and the cardiovascular, respiratory, and central nervous systems.

---

mu·co·pol·y·sac·cha·ri·do·sis (myk-pl-sk-r-dss)

n.

Any of several inherited diseases of mucopolysaccharide metabolism characterized by the accumulation of mucopolysaccharides in the tissues and their excretion in urine, resulting in various defects of bone, cartilage, and connective tissue.

---

mucopolysaccharidosis (MPS),

n a genetic disorder involving mucopolysaccharide metabolism and leading to excess storage of the material in the tissues. Forms include MPS I, II, III, IV, V, and VI. Eponymic designations are Hurler, Hunter, Sanfilippo, Morquio, Scheie, and Maroteaux-Lamy syndromes.

---

mucopolysaccharidosis

any of a group of genetically determined disorders due to a defect in glycosaminoglycan (GAG) metabolism, marked by skeletal changes, mental retardation and visceral involvement; abbreviated MPS. Achondroplastic dwarfism in cattle may be a defect of this type.

---

mucopolysaccharidosis I

caused by an inherited deficiency of a-l-iduronidase with increased urinary excretion of dermatan sulfate and heparan sulfate. Affected dogs and cats show facial dysmorphia, stunted growth, corneal clouding, lameness and granulation of leukocytes. Called also Hurler's syndrome.

mucopolysaccharidosis VI

caused by an inherited deficiency of arylsulfatase B with increased urinary excretion of dermatan sulfate. Affected Siamese cats show facial dysmorphia, corneal clouding, granulation of leukocytes, posterior paresis, and skin nodules. Called also Maroteaux-Lamy syndrome.

mucopolysaccharidosis type VII

caused by a deficiency of ß-glucaronidase. Affected dogs have facial dysmorphism and corneal edema.