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Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency. Biotin is an important water-soluble nutrient that aids in the metabolism of fats, carbohydrates, and proteins. Biotin deficiency can result in behavioral disorders, lack of coordination, learning disabilities and seizures. Biotin supplementation can alleviate and sometimes totally stop such symptoms.

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  • Biotinidase deficiency (en)
  • نقص البيوتينيداز (ar)
  • Biotinidasemangel (de)
  • Deficiencia de biotinidasa (es)
  • Déficit en biotinidase (fr)
  • Biotinidasedeficiëntie (nl)
  • Biotinidasbrist (sv)
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  • نقص البيوتينيداز هو مرضٌ وراثيٌ نادر، يصيب المواليد الجدد، حيث يصاب به مولود واحد فقط من أصل كل ستين ألف مولود. ويمكن الكشف عن هذا المرض من خلال إجراء اختبار دموي بعد الولادة مباشرة. وإذا كان لدى المريض نقص البيوتينيداز وتمت معالجته قبل ظهور الأعراض، فمن المرجح ألا تظهر لديه أية مشاكل فيما بعد. ان الإصابة بهذا المرض يجعل جسم المريض غير قادر على التعامل مع فيتامين البيوتين بشكل طبيعي. حيث يساعد البيوتين الجسم على التخلص من الدهون والكربوهيدرات والبروتين. (ar)
  • Biotinidase deficiency is an autosomal recessive metabolic disorder in which biotin is not released from proteins in the diet during digestion or from normal protein turnover in the cell. This situation results in biotin deficiency. Biotin is an important water-soluble nutrient that aids in the metabolism of fats, carbohydrates, and proteins. Biotin deficiency can result in behavioral disorders, lack of coordination, learning disabilities and seizures. Biotin supplementation can alleviate and sometimes totally stop such symptoms. (en)
  • Biotinidasedeficiëntie is een erfelijke stofwisselingsaandoening waarbij het lichaam problemen ondervindt bij de verwerking van biotine (ook wel vitamine H genoemd). Biotine is een wateroplosbare vitamine die van belang is bij het metabolisme van vetten, koolhydraten en eiwitten. Biotinetekort kan leiden tot gedragsstoornissen, coördinatiestoornissen, leerstoornissen en convulsies. Net zoals de meeste stofwisselingsaandoeningen erft de ziekte autosomaal recessief over. De aandoening wordt in België en Nederland opgespoord door middel van de hielprik. (nl)
  • Biotinidasbrist (BIOT) är en medfödd metabol sjukdom som innebär att kroppen inte kan återanvända biotin, vitamin B7, som behövs vid omsättningsprocesser i kroppen. Orsaken är autosomalt recessivt nedärvda mutationer i BTD-genen som resulterar i avsaknad av enzymet biotinidas. Barnet föds oftast friskt men utvecklar inom de första 3–6 levnadsmånaderna symptom som muskelsvaghet, hörsel- och synproblem, kramptillstånd, utvecklingsstörning och hudförändringar. I Sverige screenas alla nyfödda för denna ovanliga men lättbehandlade åkomma. (sv)
  • Biotinidasemangel oder spät einsetzender multipler Carboxylasemangel (engl. biotinidase deficiency oder late-onset multiple carboxylase deficiency) ist eine seltene Stoffwechselstörung, die autosomal rezessiv vererbt wird und die dazu führt, dass der Körper das Vitamin Biotin nicht ausreichend recyceln kann.Der Biotinidasemangel gehört zum Formenkreis des Multiplen Carboxylase-Mangels. Biotinidasemangel zählt zu den so genannten seltenen Krankheiten (englisch orphan disease). (de)
  • La deficiencia de biotinidasa es un desorden metabólico autosómico recesivo en que la biotina no es liberada de las proteínas en la dieta durante la digestión o del catabolismo de proteína normal en la célula. Esta situación resulta en una deficiencia de biotina. (es)
  • Le déficit en biotinidase ou holocarboxylase se manifeste rapidement après la naissance par : * une acidocétose sévère avec hypoglycémie ; * hyperventilation, apnée, stridor ; * une dermatite exfoliante ; * une urine qui sent une odeur particulière (tomcatlike odor) ; * des troubles neurologiques (hypotonie, convulsions résistantes aux traitements (38 %), ataxie, neuropathies. Les manifestations plus tardives comprennent : Le déficit partiel se manifeste par des pertes de cheveux, des troubles cutanés et des épisodes d'hypotonie particulièrement lors du stress. (fr)
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  • Biotinidase deficiency (en)
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  • Biotinidase deficiency (en)
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  • http://commons.wikimedia.org/wiki/Special:FilePath/Autorecessive.svg
  • http://commons.wikimedia.org/wiki/Special:FilePath/Biocytin.svg
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