Mucopolysaccharidosis type VII
Mucopolysaccharidosis type VII Causes
Sly syndrome is genetic and is therefore passed from parents to children.
Mucopolysaccharidosis type VII Definition
Sly syndrome or Mucopolysaccharidosis type VII is an autosomal recessive lyososomal storage disease characterized by a deficiency of the enzyme ?-glucuronidase, a lyososomal enzyme. The deficiency in the said enzyme results to the accumulation of certain comples carbohydrates in many tissues and organs of the body. The disease was named after its discoverer William Sly.
Mucopolysaccharidosis type VII Diagnosis
Examining the granulocytes for coarse metachromatic inclusions as well skeletal radiographs help diagnose the disease.
Mucopolysaccharidosis type VII Symptoms and Signs
Its symptoms are similar to those of Hurler syndrome such as Hurler-like faces, corneal opacity, anteverted nostrils and a depressed nostril bridge, prominent alveolar processes and cleft plate, dysotosis multiplex in the bones, and others.
Mucopolysaccharidosis type VII Treatment
Corneal transplants and corrective surgery are the current options for patients since there really is no existing treatment for the disease itself.