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Journals / İzmir Tepecik Eğitim Hastanesi Dergisi / 2017 / Cilt: 27 - Sayı: 3

Primary neurotransmitter metabolism disorders

Primer nörotransmitter metabolizma kusurları

Melis KÖSE
Mahmut ÇOKER
Pages
169–178
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this review, we aimed to summarize the current knowledge about primary monoamine neurotransmitter disorders and recent advances in therapeutic strategies

📌 3 Key Takeaways

🎯
Objective & Hypothesis:The neurotransmitter metabolism disorders are a group of inherited metabolic disorders that are caused by defective synthesis, breakdown and/or transport of neurotransmitters .
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Key Findings & Data:These diseases may be easily misdiagnosed as hypoxic ischemic encephalopathy and cerebral palsy .
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Conclusion & Impact:In this review, we aimed to summarize the current knowledge about primary monoamine neurotransmitter disorders and recent advances in therapeutic strategies
🔬Design:Review & Systematic Survey
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

The neurotransmitter metabolism disorders are a group of inherited metabolic disorders that are caused by defective synthesis, breakdown and/or transport of neurotransmitters . These diseases may be easily misdiagnosed as hypoxic ischemic encephalopathy and cerebral palsy . Without sufficient physical examination, clinical assessment and further cerebrospinal fluid analysis the correct diagnosis imay not be possible. Clinical suspicion is the most important step in the diagnostic process. In this review, we aimed to summarize the current knowledge about primary monoamine neurotransmitter disorders and recent advances in therapeutic strategies

Özet

Nörotransmitter metabolizma kusurları, nörotransmitter sentezi, yıkımı ve/veya taşınımındaki bozukluklardan kaynaklanan kalıtımsal metabolik hastalık grubudur. Bu grup hastalıklar kolaylıkla hipoksik iskemik ensefalopati veya serebral palsi gibi yanlış tanılar alabilir. Yeterli klinik değerlendirme, fizik muayene ve beyin omurilik sıvısı analizleri olmadan tanı koyulması olası olmayabilir. Klinik şüphe tanısal süreçteki en önemli basamaktır. Bu derlemede, primer monoamine nörotransmitter metabolizma bozuklukları alanında günümüze kadar edinilmiş bilgilerin ve tedavi stratejilerindeki yeni gelişmelerin özetlenmesi amaçlanmıştır

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Cite This Article

KÖSE, M., ÇOKER, M. (2017). Primary neurotransmitter metabolism disorders. İzmir Tepecik Eğitim Hastanesi Dergisi, Cilt: 27 - Sayı: 3, 169–178. https://ajindex.com/articles/201707

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