inclusion cell disease

mu·co·lip·i·do·sis II

[MIM*252500] 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

单词	inclusion cell disease
释义	EncyclopediaSeeI-cell disease inclusion cell disease mu·co·lip·i·do·sis II [MIM*252500] 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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