| 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 &... |
| FECU | factor [VIII] correctional unit |
| VIIIc | factor VIII clotting activity |
| VIII: C | VIII clotting activity |
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| VIII C | VIII procoagulant activity |
| VIII-VWF | VIII-von Willebrand factor |
| VIII R:Ag | VIII related antigen |
| F VIII | Factor VIII |
| 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) |
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| glycogen storage disease type VIII | <disease> An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon. Inheritance: X-linked recessive (12 Dec 1998) |
| 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 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 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) |
| cochlear root of VIII nerve | <anatomy, nerve> One of the components of the vestibulocochlear nerve; it is made up of the central processes of the bipolar neurons which compose the spiral (cochlear) ganglion in the spiral canal of the modiolus of the bony cochlea; the cochlear root enters the cranial cavity by passing in fascicles through the spiral foraminous tract at the bottom of the internal auditory meatus; it enters the brainstem through the pontomedullary groove, closely adhering to the caudoventral aspect of the vestibular root, and distributes its fibres to the ventral and dorsal cochlear nuclei in the floor of the lateral recess of the fourth ventricle. Synonym: radix cochlearis, cochlear root of vestibulocochlear nerve, inferior root of vestibulocochlear nerve, radix inferior nervi vestibulocochlearis. (05 Mar 2000) |
| cranial nerve VIII | <anatomy, nerve> The vestibulocochlear nerve is responsible for the sense of hearing and balance (body position sense). Lesions of the eighth nerve can result in deafness, tinnitus, dizziness, vertigo and vomiting. Synonym: cranial nerve VIII. (27 Sep 1997) |
| serum factor VIII antigen | A test used to measure the activity of a blood clotting factor VIII (Von Willebrand factor). This test is usually used to monitor treatment of haemophilia. Abnormally low factor VIII assays may be seen in the following conditions: congenital deficiency of factor VIII (haemophilia), DIC and secondary fibrinolysis. This test may also be performed in the evaluation of Von Willebrand's disease. (27 Sep 1997) |
| factor viii | A coagulation (clotting) factor. Classic haemophilia (haemophilia A) is due to a congenital deficiency in the amount (or activity) of factor VIII. Factor VIII is also known as antihemophiliac factor (AHF) or antihemophiliac globulin (AHG). The gene for factor VIII (that for classic haemophilia) is on the X chromosome so females can be silent carriers without symptoms and males can be haemophiliacs. (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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