Question

why is level of urine glycosaminoglycan secretion levels normal in I-cell disease but elevated in other...

why is level of urine glycosaminoglycan secretion levels normal in I-cell disease but elevated in other lysosomal storage diseases

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Answer #1

Lysosomal storage disorders are characterized by inherited deficiencies of lysosomal enzymes which is very essential for the degradation of mucopolysaccharides.

A failure of the metabolism induces selective accumulation of glycosaminoglycan in the blood, urine and body tissues.

A significant impairment of the responsible enzyme activity leads to the accumulation of the selective glycosaminoglycan.

I-Cell disease is an autosomal recessive disorder. The enzyme transfers phosphate to mannose residues on specific proteins. Without this marker, the proteins are instead excreted outside- the default pathway for proteins moving through the golgi apparatus. Lysosomes cannot function without these proteins.

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