| 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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| JVP | [POMD P 49 - 52] 1) Jugular Vein Pressure 2) Jugular Venous Pulse ... |
| AT III | angiotensin III; antithrombin III |
| PMD | Progressive Muscular Dystrophy; 진행성 근이영양증 Types of PMD(Progressive Muscular Dystroph... |
| MEN | Multiple Endocrine Neoplasia ; AD Trait 1. MEN Type I(= Wermer Syndro... |
| GSD III | Glycogen storage disease type III |
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| HTLV III | Human T Cell Lymphotropic Virus Type III |
| HTLV-III | Human T-cell leukaemia virus type III |
| HTLV-III | Human T-lymphotropic virus type III |
| FN III | fibronectin type III |
pseudounipolar bipolar III disorder
transverse facial vein
| 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) |
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| 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) |
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| 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) |
| 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) |
| 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) |
| glycogen storage disease type III | <disease> An autosomal recessive metabolic disorder due to deficient expression of amylo-1,6-glucosidase (one part of the glycogen debranching enzyme system). The clinical course of the disease is similar to that of glycogen storage disease type I, but milder. Massive hepatomegaly, which is present in young children, diminishes and occasionally disappears with age. Levels of glycogen with short outer branches are elevated in muscle, liver, and erythrocytes. Six subgroups have been identified, with subgroups type IIIa and type IIIb being the most prevalent. Inheritance: autosomal recessive (12 Dec 1998) |
| protoporphyrinogen type III | The immediate precursor of protoporphyrin III in haem biosynthesis; elevated in cases of variegate porphyria. (05 Mar 2000) |
| protoporphyrinogen type III oxidase | A mitochondrial enzyme that uses O2 to convert protoporphyrinogen type III to protoporphyrin type III in haem biosynthesis; a deficiency of this enzyme is associated with variegate porphyria. (05 Mar 2000) |
| protoporphyrin type III | 2,7,12,18-Tetramethyl-3,8-divinylporphin-13,17dipropionic acid;the principal protoporphyrin found in nature (one of 15 possible isomers), characterised by the presence of 4 methyl groups, 2 vinyl groups, and 2 propionic acid side chains; a porphyrin derivative that, with iron, forms the haem of haemoglobin and the prosthetic groups of myoglobin, catalase, cytochromes, etc. (05 Mar 2000) |
| hyperlipoproteinaemia type III | A rather uncommon form of familial hyperlipaemia characterised by the presence of lipoproteins of abnormal composition. The main abnormal lipoproteins are called beta-vldl and have a different apoprotein content and a higher proportion of cholesterol relative to triglyceride than normal vldl. (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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