Overview

Hunter syndrome


Show Summary Details

Quick Reference

A hereditary disorder caused by deficiency of an enzyme that results in the accumulation of protein–carbohydrate complexes and fats in the cells of the body (see mucopolysaccharidosis). This leads to mental retardation, enlargement of the liver and spleen, and prominent coarse facial features (gargoylism). The disease is sex-linked, being restricted to males, although females can be carriers. Medical name: mucopolysaccharidosis type II. C. H. Hunter (1872–1955), US physician

Subjects: Medicine and Health.


Reference entries

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.