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mucolipidosis II

 

Definition: a metabolic disorder with onset in early childhood characterized by clinical and radiographic findings similar to those in Hurler syndrome including gum hypertrophy, thoracic dysplasia, congenital hip dislocation, and mental retardation; vacuolated lymphocytes and unusual inclusion bodies in cultured fibroblasts (I-cells) are found; lysosomal enzymes are increased in serum, spinal fluid, and urine; urinary mucopolysaccharides are normal; associated with a deficiency of N-acetylglucosaminyl-1-phosphotransferase; autosomal recessive inheritance.

Synonym(s): I-cell disease, inclusion cell disease

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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