Succinic semialdehyde dehydrogenase deficiency (original) (raw)
L'acidurie 4 hydroxy-butyrique se manifeste par un retard psychomoteur, une hypotonie apparaissant dans l'enfance et une ataxie. Des crises convulsives se rencontrent chez 50 % des individus atteints. Une hyperactivité, des auto-mutilations, un comportement agressif, des hallucinations et des troubles du sommeil sont habituels chez les malades les plus âgés. L'atteinte des noyaux gris centraux avec chorée-athétose, dystonie et myoclonie survient dans les cas les plus sévères. Le diagnostic se fait en dosant la 4-hydroxybutyrique dans les urines.
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| dbo:abstract | عوز نازع هيدروجين ألدهيد السكسينيك النصفي، أو عوز نازع هيدروجين سيمي ألدهيد السكسينيك (بالإنجليزية: Succinic semialdehyde dehydrogenase deficiency)، اضطراب وراثي جسمي مقهور نادر يصيب سبيل تحلل الناقل العصبي المثبط «حمض غاما-أمينوبيوتيريك» أو «غابا». كُشف هذا الاضطراب لدى 350 عائلةً تنحدر نسبة كبيرة منها من ذات السلف. شُخصت أول حالة عام 1981، ونُشرت في مجلة الكيمياء السريرية الهولندية التي سلطت الضوء على عدد من أشيع الحالات العصبية المرافقة مثل التخلف العقلي وتأخر الحركة والنطق واكتساب اللغة. أظهرت آخر الحالات المدروسة في تسعينيات القرن العشرين ترافق الاضطراب مع تظاهرات سريرية متكررة شملت نقص التوتر العضلي وضعف المنعكسات الوترية والنوب العصبية والرنح غير المترقي. يحدث عوز نازع هيدروجين سيمي ألدهيد السكسينيك نتيجة نقص تحلل إنزيم غابا. يعمل هذا الإنزيم في الظروف الطبيعية مع إنزيم ناقل أمين غابا على تحويل غابا إلى حمض السكسينيك، وبدوره يُستخدم حمض السكسينيك لتوليد الطاقة عبر حلقة كريبس. يتراكم سيمي ألدهيد السكسينيك (الوسيط النهائي لسبيل تحلل غابا) نتيجة هذا العوز، وتتعذر أكسدته إلى حمض السكسينيك، وبالتالي يتحول إلى جاما هيدروكسي بيوتيريت (جي إتش بي) عبر إنزيم نازع هيدروجين غاما-هيدروكسي بيوتيريت. يسبب هذا ارتفاعًا في جي إتش بي، ويُعتقد أن هذه السمة الأساسية للاضطراب والعامل المسبب للتظاهرات العصبية الملحوظة. (ar) Succinat-Semi-Aldehyd-Dehydrogenase-Mangel (englisch succinic semialdehyde dehydrogenase deficiency, SSADHD) ist eine extrem seltene angeborene Stoffwechselstörung. Sie ist durch einen Mangel desjenigen Enzyms charakterisiert, das am Abbau der gamma-Aminobuttersäure (GABA) beteiligt ist. GABA ist einer der wichtigsten inhibitorischen Neurotransmitter im Gehirn und steuert die Bewegungen des Menschen; ein Ungleichgewicht führt zu neurologischen Auffälligkeiten. Bei einem SSADH-Mangel ist die Signalübermittlung durch Neurotransmitter gestört. Damit fällt die Stoffwechselstörung unter die Neurotransmitter-Krankheiten. „Neurotransmitter-Krankheit“ ist ein Oberbegriff für genetische Störungen, die die Synthese, Stoffwechsel und Abbau von Neurotransmittern beeinflussen. Diese angeborenen Stoffwechselstörungen beeinflussen das zentrale Nervensystem und wenn sie unbehandelt bleiben, kann es zu stark beeinträchtigter neurologischer Funktion kommen. Synonyme sind: Bernsteinsäure-Semialdehyd-Dehydrogenase-Mangel; Succinat-Semialdehyd-Dehydrogenase-Mangel; 4-Hydroxybutyrazidurie; 4-Hydroxybuttersäure-Azidurie (de) L'acidurie 4 hydroxy-butyrique se manifeste par un retard psychomoteur, une hypotonie apparaissant dans l'enfance et une ataxie. Des crises convulsives se rencontrent chez 50 % des individus atteints. Une hyperactivité, des auto-mutilations, un comportement agressif, des hallucinations et des troubles du sommeil sont habituels chez les malades les plus âgés. L'atteinte des noyaux gris centraux avec chorée-athétose, dystonie et myoclonie survient dans les cas les plus sévères. Le diagnostic se fait en dosant la 4-hydroxybutyrique dans les urines. (fr) Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive disorder of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid, or GABA. The disorder has been identified in approximately 350 families, with a significant proportion being consanguineous families. The first case was identified in 1981 and published in a Dutch clinical chemistry journal that highlighted a number of neurological conditions such as delayed intellectual, motor, speech, and language as the most common manifestations. Later cases reported in the early 1990s began to show that hypotonia, hyporeflexia, seizures, and a nonprogressive ataxia were frequent clinical features as well. SSADH deficiency is caused by an enzyme deficiency in GABA degradation. Under normal conditions, SSADH works with the enzyme GABA transaminase to convert GABA to succinic acid. Succinic acid can then be utilized for energy production via the Krebs cycle. However, because of the deficiency, the final intermediate of the GABA degradation pathway, succinic semialdehyde, accumulates and cannot be oxidized to succinic acid and is therefore reduced to gamma-hydroxybutyric acid (GHB) by gamma-hydroxybutyric dehydrogenase. This causes elevations in GHB and is believed to be the trademark of this disorder and cause for the neurological manifestations seen. (en) 숙신알데히드 탈수소효소 결핍증(Succinic semialdehyde dehydrogenase deficiency; SSADHD)은 희귀한 상염색체 열성 유전병으로 억제성 신경전달물질인 GABA를 제대로 대사하지 못하는 희귀병이다. 전 세계적으로 약 350건이 보고되어 있으며, 첫 사례는 1981년 네덜란드에서 나왔다. GABA를 분해하는 효소의 결핍이 숙신알데히드 탈수소효소 결핍증의 원인이다. 숙신알데히드 탈수소효소는 GABA 아미노기 전이효소와 함께 GABA를 숙신산으로 바꾼다. 숙신산은 시트르산회로로 들어가 에너지를 낼 수 있다. 그러나 숙신알데히드 탈수소효소가 결핍되면 GABA 분해경로에서 최종 중간체인 숙신알데히드가 숙신산으로 산화되지 못하고 GHB로 환원되어 체내에 축적된다. GHB가 체내에 축적되면 직접 복용했을 때와 마찬가지로 신경학적 장애의 원인이 된다. (ko) |
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| rdfs:comment | L'acidurie 4 hydroxy-butyrique se manifeste par un retard psychomoteur, une hypotonie apparaissant dans l'enfance et une ataxie. Des crises convulsives se rencontrent chez 50 % des individus atteints. Une hyperactivité, des auto-mutilations, un comportement agressif, des hallucinations et des troubles du sommeil sont habituels chez les malades les plus âgés. L'atteinte des noyaux gris centraux avec chorée-athétose, dystonie et myoclonie survient dans les cas les plus sévères. Le diagnostic se fait en dosant la 4-hydroxybutyrique dans les urines. (fr) 숙신알데히드 탈수소효소 결핍증(Succinic semialdehyde dehydrogenase deficiency; SSADHD)은 희귀한 상염색체 열성 유전병으로 억제성 신경전달물질인 GABA를 제대로 대사하지 못하는 희귀병이다. 전 세계적으로 약 350건이 보고되어 있으며, 첫 사례는 1981년 네덜란드에서 나왔다. GABA를 분해하는 효소의 결핍이 숙신알데히드 탈수소효소 결핍증의 원인이다. 숙신알데히드 탈수소효소는 GABA 아미노기 전이효소와 함께 GABA를 숙신산으로 바꾼다. 숙신산은 시트르산회로로 들어가 에너지를 낼 수 있다. 그러나 숙신알데히드 탈수소효소가 결핍되면 GABA 분해경로에서 최종 중간체인 숙신알데히드가 숙신산으로 산화되지 못하고 GHB로 환원되어 체내에 축적된다. GHB가 체내에 축적되면 직접 복용했을 때와 마찬가지로 신경학적 장애의 원인이 된다. (ko) عوز نازع هيدروجين ألدهيد السكسينيك النصفي، أو عوز نازع هيدروجين سيمي ألدهيد السكسينيك (بالإنجليزية: Succinic semialdehyde dehydrogenase deficiency)، اضطراب وراثي جسمي مقهور نادر يصيب سبيل تحلل الناقل العصبي المثبط «حمض غاما-أمينوبيوتيريك» أو «غابا». كُشف هذا الاضطراب لدى 350 عائلةً تنحدر نسبة كبيرة منها من ذات السلف. (ar) Succinat-Semi-Aldehyd-Dehydrogenase-Mangel (englisch succinic semialdehyde dehydrogenase deficiency, SSADHD) ist eine extrem seltene angeborene Stoffwechselstörung. Sie ist durch einen Mangel desjenigen Enzyms charakterisiert, das am Abbau der gamma-Aminobuttersäure (GABA) beteiligt ist. GABA ist einer der wichtigsten inhibitorischen Neurotransmitter im Gehirn und steuert die Bewegungen des Menschen; ein Ungleichgewicht führt zu neurologischen Auffälligkeiten. Bei einem SSADH-Mangel ist die Signalübermittlung durch Neurotransmitter gestört. Damit fällt die Stoffwechselstörung unter die Neurotransmitter-Krankheiten. (de) Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare autosomal recessive disorder of the degradation pathway of the inhibitory neurotransmitter γ-aminobutyric acid, or GABA. The disorder has been identified in approximately 350 families, with a significant proportion being consanguineous families. The first case was identified in 1981 and published in a Dutch clinical chemistry journal that highlighted a number of neurological conditions such as delayed intellectual, motor, speech, and language as the most common manifestations. Later cases reported in the early 1990s began to show that hypotonia, hyporeflexia, seizures, and a nonprogressive ataxia were frequent clinical features as well. (en) |
| rdfs:label | عوز نازع هيدروجين ألدهيد السكسينيك النصفي (ar) Succinat-Semi-Aldehyd-Dehydrogenase-Mangel (de) Acidurie 4 hydroxy-butyrique (fr) 숙신알데히드 탈수소효소 결핍증 (ko) Succinic semialdehyde dehydrogenase deficiency (en) |
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