Uronic acid level in urine is elevated in

MUCOPOLYSACCHARIDOSES The mucopolysaccharidoses 7are hereditary diseases (1:25,000 live bihs) caused by a deficiency of any one of the lysosomal hydrolases normally involved in the degradation of heparan sulfate and/or dermatan sulfate . They are progressive disorders characterized by lysosomal accumulation of GAGs in various tissues, causing a range of symptoms, such as skeletal and extracellular matrix deformities, and intellectual disability. All are autosomal recessive disorders except Hunter syndrome, which is X linked. Children who are homozygous for any one of these diseases are apparently normal at bih and then gradually deteriorate. In severe cases, death occurs in childhood. There currently is no cure. Incomplete lysosomal degradation of GAGs results in the presence of oligosaccharides in the urine. These fragments can be used to diagnose the specific mucopolysaccharidosis by identifying the structure present on the nonreducing end of the oligosaccharide, because that residue would have been the substrate for the missing enzyme. Diagnosis is confirmed by measuring the patient's cellular level of the lysosomal hydrolases. Bone marrow and cord blood transplants, in which transplanted macrophages produce the enzymes that degrade GAGs, have been used to treat Hurler and Hunter syndromes, with limited success. Enzyme replacement therapy is available for both syndromes but does not prevent neurologic damage. Ref : Lippincotts biochemistry 5th edition page no:310