Medical Definition of Mucolipidosis II

1. Mucolipidosis of early onset and with severe symptoms like those in Hurler's syndrome but with normal urinary mucopolysaccharides, vacuolated lymphocytes, and inclusion bodies in cultured fibroblasts (I-cells). The lysosomes lack hydrolases but high concentrations of lysosomal enzymes are found in the extracellular fluids such as serum, spinal fluid, and urine. It is associated with a deficiency of N-acetylglucosaminyl-1-phosphotransferase. The gene defect responsible probably prevents the addition of the lysosome recognition marker mannose 6 phosphate) to these enzymes so that they are not directed into the lysosomes but are released. Inheritance: autosomal recessive. Synonym: I-cell disease, inclusion cell disease. (12 Jul 2000)

Lexicographical Neighbors of Mucolipidosis II

mucoepidermoid carcinoma
mucoepidermoid tumour
mucoglobulin
mucoid
mucoid adenocarcinoma
mucoid colony
mucoid degeneration
mucoid impaction of bronchus
mucoid medial degeneration
mucoidal
mucoids
mucolipidoses
mucolipidosis
mucolipidosis I
mucolipidosis II (current term)
mucolipidosis III
mucolipidosis IV
mucolipin
mucolipins
mucolysis
mucolytic
mucolytics
mucomembranous
mucomembranous enteritis
muconate
muconate cycloisomerase
muconates
muconic
muconic acid

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