https://scholars.lib.ntu.edu.tw/handle/123456789/527409
標題: | Disorders of monoamine metabolism: Inherited disorders frequently misdiagnosed as epilepsy | 作者: | WANG-TSO LEE | 關鍵字: | Aromatic L-Amino acid decarboxylase deficiency; Pediatric neurotransmitter diseases; Sepiapterin reductase deficiency; Tyrosine hydroxylase deficiency | 公開日期: | 2010 | 出版社: | Japan Epilepsy Society | 卷: | 3 | 期: | 1 | 起(迄)頁: | 147-153 | 來源出版物: | Epilepsy and Seizure | 摘要: | Pediatric neurotransmitter diseases are new emerging neurological diseases in children. They include tyrosine hydroxylase (TH) deficiency, aromatic L-amino acid decarboxylase (AADC) deficiency, succinic semialdehyde dehydrogenase (SSADH) deficiency, guanosine triphosphate cyclohydrolase I deficiency, sepiapterin reductase (SR) deficiency and cerebral folate deficiency. Of these, monoamine biosynthesis and metabolism disorders are one group of inherited disorders usually requiring specific diagnostic procedures. Children with disorders of neurotransmitters often present with psychomotor retardation, hypotonia and microcephaly. Although seizures may be more common in patients with SR deficiency, patients with TH or AADC deficiency only occasionally have non-epileptic myoclonus. However, the episodic dystonia and oculogyric crisis manifested in these patients are frequently misdiagnosed as epilepsy, and multiple anti-epileptic drugs (AEDs) may be given. In the present short review, the pathogenesis and diagnosis of these neurotransmitter disorders are discussed, with the hope that correct diagnosis of pediatric neurotransmitter diseases can reduce the unnecessary AED treatment. ? 2010, Japan Epilepsy Society. All rights reserved. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85053429571&doi=10.3805%2feands.3.147&partnerID=40&md5=cbabb1fc4ec91b85faa3445cdd6695d0 https://scholars.lib.ntu.edu.tw/handle/123456789/527409 |
ISSN: | 1882-5567 | DOI: | 10.3805/eands.3.147 | SDG/關鍵字: | anticonvulsive agent; aromatic levo amino acid decarboxylase; guanosine triphosphate cyclohydrolase I; neurotransmitter; sepiapterin reductase; succinate semialdehyde dehydrogenase; biosynthesis; diagnostic error; diagnostic test; dystonia; enzyme deficiency; epilepsy; epileptogenesis; folic acid deficiency; genetic disorder; human; metabolic disorder; microcephaly; monoamine metabolism; muscle hypotonia; neurologic disease; nonhuman; oculogyric crisis; pathogenesis; psychomotor retardation; Review; seizure |
顯示於: | 醫學系 |
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