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Sphingolipidosen sind, bis auf den X-chrom … Sphingolipidosen sind, bis auf den X-chromosomal vererbten Morbus Fabry, durch autosomal-rezessiv vererbte Gene ausgelöste Stoffwechselkrankheiten, die sich vorwiegend im zentralen Nervensystem manifestieren. Sie gehören zu der Gruppe der lysosomalen Speicherkrankheiten. Durch lysosomale Enzymdefekte oder -defizite, aber auch durch Defekte der Transport- oder Aktivatorproteine kommt es zu einer pathologischen intrazellulären Akkumulation von nicht weiter abbaubaren Sphingolipiden. Gemeinsame Symptome:
* motorische und geistige Retardierung
* Vergrößerung von Leber und Niere
* häufig kirschroter Makulafleck Die metachromatische Leukodystrophie und Krabbe-Leukodystrophie sind demyelinisierende Erkrankungen, d. h. das Signalverhalten in kernspintomographischen Aufnahmen ist ähnlich wie bei anderen erworbenen demyelinisierenden Erkrankungen, wie z. B. Multiple Sklerose, Akute disseminierte Enzephalomyelitis, , Neuromyelitis optica und Progressive multifokale Leukenzephalopathie. Im Allgemeinen handelt es sich um schwere, noch in der Kindheit zum Tode führende Erkrankungen.r Kindheit zum Tode führende Erkrankungen.
, Sphingolipidoses are a class of lipid stor … Sphingolipidoses are a class of lipid storage disorders or degenerative storage disorders caused by deficiency of an enzyme that is required for the catabolism of lipids that contain ceramide, also relating to sphingolipid metabolism. The main members of this group are Niemann–Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy. They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked recessive. Taken together, sphingolipidoses have an incidence of approximately 1 in 10,000, but substantially more in certain populations such as Ashkenazi Jews. Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.e mild for juvenile- or adult-onset forms.
, Сфинголипидо́зы (в единственном числе — сф … Сфинголипидо́зы (в единственном числе — сфинголипидо́з, англ. sphingolipidosis) группа лизосомных болезней накопления, связанных с нарушением метаболизма сфинголипидов, относится к классу болезней накопления липидов (липидозов). Основными представителями этой группы являются болезнь Ниманна — Пика, болезнь Фабри, болезнь Краббе, болезнь Гоше, болезнь Тея — Сакса и метахроматическая лейкодистрофия. Они, как правило, наследуется по аутосомно-рецессивному типу, однако в частности, болезнь Фабри — редкое генетически детерминированное заболевание с Х-сцепленным рецессивным типом наследования.сцепленным рецессивным типом наследования.
, Con il termine sfingolipidosi si designano … Con il termine sfingolipidosi si designano tutte quelle malattie monogeniche autosomiche recessive, caratterizzate dall'accumulo lisosomiale di gangliosidi, una classe di lipidi. Le più note tra esse sono la malattia di Gaucher, la malattia di Tay-Sachs, la Malattia di Fabry e la malattia di Niemann-Pick.ia di Fabry e la malattia di Niemann-Pick.
, Esfingolipidoses são distúrbios do metabol … Esfingolipidoses são distúrbios do metabolismo de de origem genética, autossômicos recessivos, incomuns e que degeneram progressivamente o sistema nervoso central. São caracterizadas por defeito no catabolismo dos lípidos contendo esfingosina, por problema ou ausência de alguma proteína ativadora ou enzimas contidas nos lisossomos. Os sintomas só aparecem depois de alguns meses ou anos de desenvolvimento normal e envolvem degeneração das habilidades físicas, sensoriais e mentais variando em severidade e órgãos afetados de acordo com a proteína que falta.etados de acordo com a proteína que falta.
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Sphingolipidoses are a class of lipid stor … Sphingolipidoses are a class of lipid storage disorders or degenerative storage disorders caused by deficiency of an enzyme that is required for the catabolism of lipids that contain ceramide, also relating to sphingolipid metabolism. The main members of this group are Niemann–Pick disease, Fabry disease, Krabbe disease, Gaucher disease, Tay–Sachs disease and metachromatic leukodystrophy. They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked recessive. Taken together, sphingolipidoses have an incidence of approximately 1 in 10,000, but substantially more in certain populations such as Ashkenazi Jews. Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may lwith these types of sphingolipidoses may l
, Сфинголипидо́зы (в единственном числе — сф … Сфинголипидо́зы (в единственном числе — сфинголипидо́з, англ. sphingolipidosis) группа лизосомных болезней накопления, связанных с нарушением метаболизма сфинголипидов, относится к классу болезней накопления липидов (липидозов). Основными представителями этой группы являются болезнь Ниманна — Пика, болезнь Фабри, болезнь Краббе, болезнь Гоше, болезнь Тея — Сакса и метахроматическая лейкодистрофия. Они, как правило, наследуется по аутосомно-рецессивному типу, однако в частности, болезнь Фабри — редкое генетически детерминированное заболевание с Х-сцепленным рецессивным типом наследования.сцепленным рецессивным типом наследования.
, Con il termine sfingolipidosi si designano … Con il termine sfingolipidosi si designano tutte quelle malattie monogeniche autosomiche recessive, caratterizzate dall'accumulo lisosomiale di gangliosidi, una classe di lipidi. Le più note tra esse sono la malattia di Gaucher, la malattia di Tay-Sachs, la Malattia di Fabry e la malattia di Niemann-Pick.ia di Fabry e la malattia di Niemann-Pick.
, Esfingolipidoses são distúrbios do metabol … Esfingolipidoses são distúrbios do metabolismo de de origem genética, autossômicos recessivos, incomuns e que degeneram progressivamente o sistema nervoso central. São caracterizadas por defeito no catabolismo dos lípidos contendo esfingosina, por problema ou ausência de alguma proteína ativadora ou enzimas contidas nos lisossomos. Os sintomas só aparecem depois de alguns meses ou anos de desenvolvimento normal e envolvem degeneração das habilidades físicas, sensoriais e mentais variando em severidade e órgãos afetados de acordo com a proteína que falta.etados de acordo com a proteína que falta.
, Sphingolipidosen sind, bis auf den X-chrom … Sphingolipidosen sind, bis auf den X-chromosomal vererbten Morbus Fabry, durch autosomal-rezessiv vererbte Gene ausgelöste Stoffwechselkrankheiten, die sich vorwiegend im zentralen Nervensystem manifestieren. Sie gehören zu der Gruppe der lysosomalen Speicherkrankheiten. Durch lysosomale Enzymdefekte oder -defizite, aber auch durch Defekte der Transport- oder Aktivatorproteine kommt es zu einer pathologischen intrazellulären Akkumulation von nicht weiter abbaubaren Sphingolipiden. Gemeinsame Symptome:baren Sphingolipiden. Gemeinsame Symptome:
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, Sphingolipidose
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