| 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) |
Synonyms : Deficiency Disease, Ganglioside Sialidase, Inclusion Cell Disease, Mucolipidosis I, Mucolipidosis II, Mucolipidosis III, Mucolipidosis IV, Mucolipidosis Type I, Mucolipidosis Type II, Mucolipidosis Type III, Mucolipidosis Type IV, Psuedo-Hurler Disease
| mucolipidosis |
Term coined to denote diseases that combined clinical features common to both the mucopolysaccharidoses and the sphingolipidoses (diseases characterized by abnormal lipid or fat metabolism, affecting nerve tissue). See ML II and ML III
출처: www.mpssociety.org/lib-glossary.html
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| mucolipidosis type I |
ABBR: ML I. A rare autosomal recessive disorder in which abnormal metabolism of glycoproteins and starches results in their accumulation in cells and tissues. Mental retardation, eye diseases, and musculoskeletal deformitie
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| mucolipidosis type II |
ABBR: ML II. A rare autosomal recessive disease that results in death in infancy or early childhood. Characteristic findings include severe mental retardation, poor muscle tone, kyphosis, and coarsened facial features. SYN
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| mucolipidosis type III |
ABBR: ML III. A rare autosomal recessive disease characterized by bone and joint anomalies, esp. of hip and spine development; eye diseases; and sometimes mild mental retardation. It typically becomes clinically recogniza
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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