| mucolipidosis | <biochemistry> A group of inherited metabolic diseases characterised by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. Mental retardation and skeletal changes are common. (12 Dec 1998) |
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| mucolipidosis I | <biochemistry> Mucolipidosis somewhat like a mild form of Hurler's syndrome with mild dysostosis multiplex, and moderate mental retardation due to neuraminidase deficiency. Inheritance: autosomal recessive. Synonym: lipomucopolysaccharidosis. (05 Mar 2000) |
| mucolipidosis II | <biochemistry> 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) |
| mucolipidosis III | <biochemistry> Mucolipidosis with mild Hurler-like symptoms, restricted joint mobility, short stature, mild mental retardation, and dysplastic skeletal changes, especially of the hip. Aortic and mitral valve disease are often present. It is associated with a deficiency of UDP-N-acetyl glucosamine and lysosomal enzyme N-acetylglucosaminyl-1-phosphotransferase. Inheritance: autosomal recessive. Synonym: pseudo-Hurler polydystrophy, pseudopolydystrophy. (05 Mar 2000) |
| mucolipidosis IV | <biochemistry> Psychomotor retardation with cloudy corneas and retinal degeneration, with inclusion cells in cultured fibroblasts; may be due to a deficiency of neuramidase, but details are uncertain. Inheritance: autosomal recessive. (05 Mar 2000) |