| ganglioside lipidosis | Any disease characterised, in part, by the abnormal accumulation within the nervous system of specific gangliosides, e.g., GM2 gangliosidosis, Tay-Sachs disease, caused by hexosaminidase A enzyme deficiency with accumulation of GM2 ganglioside Synonym: gangliosialidosis, ganglioside lipidosis. (05 Mar 2000) |
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| ganglioside | <biochemistry> A glycosphingolipid that contains one or more residues of N acetyl or other neuraminic acid derivatives. Gangliosides are found in highest concentration in cells of the nervous system, where they can constitute as much as 5% of the lipid. (18 Nov 1997) |
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| ganglioside galactosyltransferase | <enzyme> Consider also EC 2.4.1.45 Registry number: EC 2.4.1.62 Synonym: udpgalactose-n-acetylgalactosaminyl-(n-acetylneuraminyl)-galactosyl-glucosyl-ceramide galactosyltransferase, udpgalactose-gm2 galactosyltransferase, ganglioside gm1 synthase, udpgalactose-ceramide galactosyltransferase, udp-galactose-gm2 gangliosidebeta-1-3-galactosyltransferase, udpgal-gm2 beta1-3-galactosyltransferase (26 Jun 1999) |
| ganglioside O-acetyltransferase | <enzyme> Gd2 ganglioside is an acceptor for the above enzyme in human melanoma cells Registry number: EC 2.3.1.- (26 Jun 1999) |
| glycolipid lipidosis | <disease> Lysosomal storage disease caused by a deficiency of alpha-galactosidase a and resulting in an accumulation of globotriaosylceramide in the renal and cardiovascular systems. The disease is characterised by telangiectatic skin lesions, renal failure, and disturbances of the cardiovascular, gastrointestinal, and central nervous systems. Inheritance: x-linked. (08 Mar 2000) |
| ceramide lactoside lipidosis | An inherited disorder associated with an accumulation of ceramide lactoside due to a deficiency of ceramide lactosidase; results in progressive brain damage with liver and spleen enlargement. (05 Mar 2000) |
| g(m1) ganglioside | <chemical> Galactosyl-n-acetylgalactosaminyl-(n-acetylneuraminyl)- galactosyl-glucosylceramide. Ganglioside present in abnormally large amounts in neurons and in elevated levels in liver and kidney due to a deficiency of beta-galactosidase in the genetically determined disease gm1-gangliosidosis. Chemical name: Ganglioside GM1 (12 Dec 1998) |
| g(m2) ganglioside | <chemical> N-acetylgalactosaminyl-galactosyl-(n-acetylneuraminyl)-glucosyl-ceramide. This is the defective ganglioside manifested in tay-sachs disease and sandhoff disease. Chemical name: Ganglioside GM2 (12 Dec 1998) |
| g(m3) ganglioside | N-acetylneuraminyl-galactosyl-glucosylceramide. This ganglioside is present in abnormally large amounts in the brain and liver due to a deficient biosynthetic enzyme, g(m3):udp-n-acetylgalactosaminyltransferase. Deficiency of this enzyme prevents the formation of g(m2) ganglioside from g(m3) ganglioside and is the cause of an anabolic sphingolipidosis. (12 Dec 1998) |
| GM3 ganglioside sialidase | <enzyme> Enzyme deficient in mucolipidosis iv Registry number: EC 3.2.1.- Synonym: haematoside neuraminidase, ganglioside sialidase (26 Jun 1999) |
| cerebral lipidosis | Any one of a group of inherited diseases characterised by failure to thrive, hypertonicity, progressive spastic paralysis, loss of vision and occurrence of blindness, usually with macular degeneration and optic atrophy, convulsions, and mental deterioration; associated with abnormal storage of sphingomyelin and related lipids in the brain. Four types are recognised as clinically and enzymatically distinct: 1) infantile type (Tay-Sachs disease, GM2 gangliosidosis) due to a deficiency of hexosaminidase A; 2) early juvenile type (Jansky-Bielschowsky or Bielschowsky's disease); 3) late juvenile type (Spielmeyer-Vogt disease; Spielmeyer-Sjogren disease; Batten-Mayou disease; ceroid lipofuscinosis); and 4) adult type (Kufs disease). Synonym: cerebral lipidosis. (05 Mar 2000) |
| cerebroside lipidosis | <disease> A chronic congenital disease of lipid metabolism caused by a deficiency of the beta-glucocerebrosidase enzyme. The defect is most common in Ashkenazi Jews. Clinical features are hepatosplenomegaly (enlargement of liver and spleen) and in severe early onset forms of the disease, with neurological dysfunction. Inheritance: autosomal recessive. (27 Sep 1997) |
| sphingomyelin lipidosis | <disease> A family of severe lysosomal storage diseases resulting in an accumulation of sphingomyelin and other phospholipids in the reticuloendothelial system. The best studied forms are due to deficiency of sphingomyelinase and it is more common in Ashkenazi Jews than other groups. Clinical signs include foam cells in the blood and marrow, hepatosplenomegaly and neurologic degeneration. Diagnosis is confirmed by enzyme assay on leukocytes or fibroblasts and specific mutations in the gene are now recognised. (29 Dec 1997) |
| sulfatide lipidosis | <radiology> Dysmyelinating disease, autosomal recessive, aryl sulfatase A -- absent from urine and serum, most present by 2 yrs, die at 3-4 yrs, may arise at any age, CT: decreased density of white matter, primarily in centrum semiovale, with or without focal gall bladder defects (!) (12 Dec 1998) |
| lipidosis | Hereditary abnormality of lipid metabolism that results in abnormal amounts of lipid deposition; classification is typically based on the responsible enzymatic deficiency and type of lipid involved. Such enzymatic activity takes place in the lysosomes, and the abnormal products appear as lysosomal storage diseases. Sphingolipidoses make up the largest portion of recognised lipidoses, including abnormal metabolism of gangliosides, ceramides, and cerebrosides. Origin: Lipid + G. -osis, condition (05 Mar 2000) |
제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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제품명 |
판매사 |
보험코드 | 성분/함량 | 구분/보험급여 |
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