| 영문 | mucopolysaccharidosis | 한글 | 점액다당류증 |
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| 설명 | 점액다당류대사 결손을 원인으로 하며 점액다당류의 광범한 조직내 침착과 오줌중의 과잉배설을 동반하는 골격변화, 정신지체, 내장침습 및 각막혼탁을 특징으로 하는 유전적 질환의 총칭. 헐러(Hurler) 증후군은 본 병의 기본형이다. 연골 원기, 성장판, 갈비뼈의 연골 및 관절의 연골 등에 점액다당이 축적되어 길이성장의 장애로 단신, 가슴벽 이상 또는 기형뼈 등이 나타난다. |
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| ECG | Electro-Cardio-Graphy(-Gram); 심전도 = EKG 1. Conducting System Structu... |
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| PMD | Progressive Muscular Dystrophy; 진행성 근이영양증 Types of PMD(Progressive Muscular Dystroph... |
| TAPVR | Total Anomalous Pulmonary Venous Return = TAPVC 4 Types of TAPVR &... |
| ALL | Acute Lymphocytic Leukemia 형태학적 분류 L1; Small, Homogenous(... |
| MEN | Multiple Endocrine Neoplasia ; AD Trait 1. MEN Type I(= Wermer Syndro... |
| MPS I | Mucopolysaccharidosis Type I |
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| MPS VII | Mucopolysaccharidosis Type VII |
| MPS VI | Mucopolysaccharidosis type VI |
| MPS I | Mucopolysaccharidosis I |
| MPS VI | Mucopolysaccharidosis VI |
| type IH mucopolysaccharidosis | <syndrome> Mucopolysaccharidosis in which there is a deficiency of alpha-l-iduronidase, an accumulation of an abnormal intracellular material, and excretion of dermatan sulfate and heparan sulfate in the urine; with severe abnormality in development of skeletal cartilage and bone, with dwarfism, kyphosis, deformed limbs, limitation of joint motion, spadelike hand, corneal clouding, hepatosplenomegaly, mental retardation, and gargoyle-like facies; autosomal recessive inheritance. See: mucolipidosis. Synonym: dysostosis multiplex, Hurler's disease, lipochondrodystrophy, Pfaundler-Hurler syndrome, type IH mucopolysaccharidosis. (05 Mar 2000) |
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| type I H/S mucopolysaccharidosis | <syndrome> Although clinically distinct diseases, fibroblasts from patients with Hurler syndrome and with Scheie syndrome do not cross complement in culture, suggesting that the enzyme defect is the same. (18 Nov 1997) |
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| type III mucopolysaccharidosis | <syndrome> An error of the mucopolysaccharide metabolism, with excretion of large amounts of heparan sulfate in the urine and severe mental retardation with hepatomegaly; skeleton may be normal or may present mild changes similar to those in Hurler's syndrome; several different types (A, B, C, and D) have been identified according to the enzyme deficiency; autosomal recessive inheritance. Synonym: type III mucopolysaccharidosis. (05 Mar 2000) |
| type II mucopolysaccharidosis | <syndrome> An error of mucopolysaccharide metabolism characterised by deficiency of iduronate sulfatase, with excretion of dermatan sulfate and heparan sulfate in the urine; clinically similar to Hurler's syndrome but distinguished by less severe skeletal changes, no corneal clouding, and X-linked recessive inheritance. Synonym: type II mucopolysaccharidosis. (05 Mar 2000) |
| type IS mucopolysaccharidosis | <syndrome> A hereditary metabolic disorder caused by a recessive gene which results in a deficiency of the enzyme alpha-L-iduronidase, which breaks down dermatan sulphate and heparan sulphate, two types of mucopolysaccharides (complex carbohydrates). Consequently, the mucopolysaccharides accumulate in the cells of the body and cause damage. Symptoms include skeletal deformities, mental retardation, coronary artery disease, deafness, and stiff joints, among other things. There are mild and severe forms of the syndrome, the severe form is called Hurler syndrome, the mild form is called Scheie Syndrome, and children with an intermediate form have Hurler-Scheie Syndrome. Patients with the mild form generally suffer little to no mental retardation and survive to adulthood. There is presently no cure. Scheie's Syndrome is one of a number of related rare genetic mucopolysaccharide disorders, the most common being Hunter syndrome. (09 Oct 1997) |
| type IVA,B mucopolysaccharidosis | <syndrome> An error of mucopolysaccharide metabolism with excretion of keratan sulfate in urine; characterised by severe skeletal defects with short stature, severe deformity of spine and thorax, long bones with irregular epiphyses but with shafts of normal length, enlarged joints, flaccid ligaments, and waddling gait; autosomal recessive inheritance; type IV A mucopolysaccharidosis is due to an absence of galactose-1-sulfatase, while type IV B is due to a deficiency of a beta-galactosidase. Synonym: Brailsford-Morquio disease, Morquio's disease, Morquio-Ullrich disease, type IVA, B mucopolysaccharidosis. (05 Mar 2000) |
| type VIII mucopolysaccharidosis | <syndrome> An autosomal recessive disorder due to a deficiency of a beta-glucuronidase; defective lysosomal degradation of dermatan sulfate, heparan sulfate, and chondroitin sulfate; cellular function disrupted in most tissues. Synonym: type VII mucopolysaccharidosis, type VIII mucopolysaccharidosis. (05 Mar 2000) |
| type VII mucopolysaccharidosis | <syndrome> An autosomal recessive disorder due to a deficiency of a beta-glucuronidase; defective lysosomal degradation of dermatan sulfate, heparan sulfate, and chondroitin sulfate; cellular function disrupted in most tissues. Synonym: type VII mucopolysaccharidosis, type VIII mucopolysaccharidosis. (05 Mar 2000) |
| type VI mucopolysaccharidosis | <biochemistry, syndrome> An error of mucopolysaccharide metabolism due to deficiency of the lysosomal enzyme arylsulphatase B. It is characterised by excretion of dermatan sulfate in the urine, growth retardation, lumbar kyphosis, sternal protrusion, genu valgum, usually hepatosplenomegaly, and no mental retardation. Onset occurs after two years of age. Inheritance: autosomal recessive. Synonym: polydystrophic dwarfism, mucopolysaccharidosis type VI. (05 Mar 2000) |
| type V mucopolysaccharidosis | Former designation for Scheie's syndrome. (05 Mar 2000) |
| mucopolysaccharidosis | Any of a group of lysosomal storage diseases that have in common a disorder in metabolism of mucopolysaccharides, as evidenced by excretion of various mucopolysaccharides in urine and infiltration of these substances into connective tissue, with resulting various defects of bone, cartilage, and connective tissue. (05 Mar 2000) |
| mucopolysaccharidosis I | Systemic lysosomal storage disease caused by a deficiency of alpha-l-iduronidase and characterised by progressive physical deterioration with urinary excretion of dermatan sulfate and heparan sulfate. There are three recognised phenotypes representing a spectrum of clinical severity from severe to mild: hurler's syndrome, hurler-scheie syndrome and scheie's syndrome (formerly mucopolysaccharidosis v). Symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. (12 Dec 1998) |
| mucopolysaccharidosis II | Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of l-sulfoiduronate sulfatase. This disease differs from mucopolysaccharidosis I by slower progression, lack of corneal clouding, and x-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15. (12 Dec 1998) |
| mucopolysaccharidosis III | Mucopolysaccharidosis characterised by heparitin sulfate in the urine, progressive mental retardation, mild dwarfism, and other skeletal disorders. There are four clinically indistinguishable but biochemically distinct forms, each due to a deficiency of a different enzyme. (12 Dec 1998) |
| mucopolysaccharidosis IV | Genetic disorder of mucopolysaccharide metabolism characterised by skeletal abnormalities, joint instability, development of cervical myelopathy, and excessive urinary keratan sulfate. There are two biochemically distinct forms, each due to a deficiency of a different enzyme. (12 Dec 1998) |
| mucopolysaccharidosis vi | Mucopolysaccharidosis with excessive chondroitin sulfate b in urine, characterised by dwarfism and deafness. It is caused by a deficiency of n-acetylgalactosamine-4-sulfatase (arylsulfatase b). (12 Dec 1998) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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