mucolipidosis II

Type:Term

Definitions
1. 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.

Synonyms
I-cell disease , inclusion cell disease

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