Dictionary of Human Evolution and Biology

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Mucopolysaccharidosis, Type II

Heritable defect of carbohydrate metabolism characterized by severely deformed face, dwarfism, joint stiffness, deafness, mental impairment, heart defects, and enlarged liver and spleen; fatal in adolescence. Diagnostic heparitin sulfate is excreted in urine. Defective gene is an X-linked recessive, coding for iduronate sulphate sulfatase. Aka Hunter syndrome.

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