gangliosidosis

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: gangliosialidosis, ganglioside lipidosis.
- GM1 g. three forms exist: infantile, generalized; juvenile; and adult; g. characterized by accumulation of a specific monosialoganglioside, GM1; due to deficiency of GM1-β-galactosidase. SYN: generalized g..
- GM2 g. one of the hereditary metabolic disorders; several forms exist, including Tay-Sachs disease, Sandhoff disease, AV variant and adult onset; characterized by accumulation of a specific metabolite, GM2 ganglioside, due to deficiency of hexosaminidase A or B, or GM2 activator factor.
- generalized g. SYN: GM1 g..
- infantile GM2 g. SYN: Tay-Sachs disease.
- infantile, generalized GM1 g. one of the hereditary metabolic diseases of infancy; resembles Tay-Sachs disease, except other organ systems (bone, liver, kidney) are affected. SYN: familial neuroviscerolipidosis, pseudo-Hurler disease, Type 1 GM1 g..
- Type 1 GM1 g. SYN: infantile, generalized GM1 g..

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gan·gli·o·si·do·sis .gaŋ-glē-.ō-sī-'dō-səs n, pl -do·ses -.sēz any of several inherited metabolic diseases (as Tay-Sachs disease) characterized by an enzyme deficiency which causes accumulation of gangliosides in the tissues

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gan·gli·o·si·do·sis (gang″gle-o-si-doґsis) pl. gangliosidoґses. Any of a group of lysosomal storage diseases generally characterized by abnormal accumulation of ganglioside GM1 or GM2 and related glycoconjugates due to a deficiency of specific lysosomal hydrolases, and by progressive psychomotor deterioration usually beginning in infancy or childhood and usually fatal. Two subgroups exist (GM1 and GM2), each having several forms of varying severity.

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 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 — 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 — 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

  • gangliosidosis de tipo I — Véase enfermedad de Tay Sachs. Diccionario Mosby Medicina, Enfermería y Ciencias de la Salud, Ediciones Hancourt, S.A. 1999 …   Diccionario médico

  • gangliosidosis de tipo II — Véase enfermedad de Sandhoff. Diccionario Mosby Medicina, Enfermería y Ciencias de la Salud, Ediciones Hancourt, S.A. 1999 …   Diccionario médico

  • gangliosidosis GM2 tipo I — Eng. GM2 type I gangliosidosis Ver enfermedad de Tay Sachs …   Diccionario de oftalmología

  • gangliosidosis GM2 tipo II — Eng. GM2 type II gangliosidosis Ver enfermedad de Sandhoff …   Diccionario de oftalmología

  • gangliosidosis — noun A disorder caused by the accumulation of gangliosides …   Wiktionary

  • gangliosidosis — gan·gli·o·si·do·sis …   English syllables

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