GM1 gangliosidosis
A genetic lipid storage disorder that is similar in certain respects to Hurler syndrome and Tay-Sachs disease but which affects both the brain and the viscera (the internal organs). GM1 gangliosidosis causes skeletal deformities and exerts severe effects on the brain and internal organs. Death usually occurs by the age of 2. GM1 gangliosidosis is one of the classic lipid storage diseases. The gene responsible for it maps to chromosome 3. There is no treatment for the disease. It is also known as familial neurovisceral lipidosis and Landing disease (after the pioneering pediatric pathologist Ben Landing). See also Hurler syndrome and Tay-Sachs disease.

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an autosomal recessive disorder due to a deficiency of lysosomal β-galactosidase activity as a result of mutation in the GLB1 gene (locus: 21.33), with accumulation of ganglioside GM1>, glycoproteins, and keratan sulfate. It occurs as several forms, decreasing in severity with increasing age of onset. The infantile, or type I, form is characterized by onset at birth, severe retardation of mental and motor development, cerebral degeneration, dysostosis multiplex, hepatosplenomegaly, early blindness, coarse facies, edema, seizures, hypotonia, hyperacusis, dysarthria, and sometimes cherry-red macular spot; death occurs by the age of 2. The juvenile, or type II, form is characterized by onset between 6 and 20 months, accumulation of ganglioside GM1 in brain but not viscera, seizures, late blindness, spasticity, and ataxia; death occurs between 3 and 10 years of age. The adult, or type III, form is characterized by onset in the teens, spasticity, and dysarthria, with little intellectual impairment and survival into the third decade.

Medical dictionary. 2011.

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  • gangliosidosis — f. metabol. Conjunto de anomalías hereditarias transmitidas de forma autosómica recesiva que provocan una acumulación de gangliósidos en el sistema nervioso. Son enfermedades letales que se dividen en dos grupos, las GM1 y las GM2, en función de… …   Diccionario médico

  • Gangliosidosis — Las gangliosidosis son un conjunto de enfermedades hereditarias debidas a un acúmulo de gangliósidos sobre todo en las neurona. Existen varias formas de gangliosidosis. ● Gangliosidosis GM1:Existe un acúmulo de gangliósido GM1 por déficit de ß… …   Enciclopedia Universal

  • gangliosidosis — Any disease characterized, in part, by the abnormal accumulation within the nervous system of specific gangliosides, e.g., GM2 g., Tay Sachs disease, caused by hexosaminidase A enzyme deficiency with accumulation of GM2 ganglioside. SYN …   Medical dictionary

  • Gangliosidosis — Las gangliosidosis son un conjunto de enfermedades de almacenamiento lisosómico hereditarias debidas a un acúmulo de gangliósidos (un tipo de esfingolípidos), sobre todo en las neuronas. La causa es la disfunción de alguno de los enzimas… …   Wikipedia Español

  • Gangliosidosis — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD10|E|75|0|e|70 ICD10|E|75|1|e|70 ICD9 = ICD9|330.1 ICDO = OMIM = MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = D005733 Gangliosidosis is a lipid storage disorder caused… …   Wikipedia

  • generalized gangliosidosis — GM1 g., usually specifically the infantile form …   Medical dictionary

  • GLB1 — Galactosidase, beta 1, also known as GLB1, is a human beta galactosidase.In corn ( Zea mays ), Glb1 is a gene coding for the storage protein globulin. PBB Summary section title = summary text = Further readingPBB Further reading citations = *cite …   Wikipedia

  • Lysosomale Speicherkrankheit — Lysosomale Speicherkrankheiten (LSK) sind eine Gruppe von etwa 45 genetisch bedingten Stoffwechselerkrankungen, die durch Fehlfunktionen im Lysosom ausgelöst werden. Die Erkrankungen sind monogenetisch.[1] In der angelsächsischen Fachliteratur… …   Deutsch Wikipedia

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  • Ganglioside — is a molecule composed of a glycosphingolipid (ceramide and oligosaccharide) with one or more sialic acids (e.g. n acetylneuraminic acid, NANA) linked on the sugar chain. The 60+ known gangliosides differ mainly in the position and number of NANA …   Wikipedia

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