Mucopolysacchidosis, which is a lysosomal storage disease, occurs due to abnormality in:
Ans: a. Hydrolase enzyme [Ref Harper 30th/638-39, 29th/589, 599, 600; Lippincott 6th/163-64JThe mucopolysaccharidoses are hereditary diseases caused by a deficiency of any one of the lysosomal hydrolases normally involved in the degradation of heparan sulfate and/or dermatan sulfateThey are progressive disorders characterized by accumulation of glycosaminoglycans in various tissues, causing a range of symptoms, such as skeletal and extracellular matrix deformities, and mental retardation.Children who are homozygous for any one of these diseases are apparently normal at bih, then gradually deteriorate. In severe cases, death occurs in childhood.Diagnosis is confirmed by measuring the patient's cellular level of the lysosomal hydrolases. Bone marrow and cord blood transplants have been used to treat Hurler and Hunter syndrome
Hydrolase enzyme
Dehydorgenase enzyme
Lipase enzyme
Phosphatase