https://scholars.lib.ntu.edu.tw/handle/123456789/527396
標題: | Disorders of amino acid metabolism associated with epilepsy | 作者: | WANG-TSO LEE | 關鍵字: | Amino acids; Epilepsy; Infant; Neurometabolic diseases | 公開日期: | 2011 | 卷: | 33 | 期: | 9 | 起(迄)頁: | 745-752 | 來源出版物: | Brain and Development | 摘要: | Seizures are a common presenting manifestation in children with disorders of amino acid metabolism. However, seizures may be very common in some specific diseases, but are rare in other diseases. In patients with classical maple syrup urine disease (MSUD), seizures commonly occur in the neonatal stage. But in intermittent or intermediate MSUD, seizures may develop in a later stage, or are uncommon. Patients with nonketotic hyperglycinemia often present with early myoclonic encephalopathy in the first weeks of life. However, in patients with atypical variants, seizures may be rare. In addition, patients with sulfite oxidase deficiency, serine deficiency, or GABA-related disorders may also present with different types of seizures. In monoamine biosynthesis disorders, seizures are rare, but paroxysmal dystonia is frequently misdiagnosed as seizures. Therefore, the incidence of seizures in disorders of amino acid metabolism is variable. Timely diagnosis and early treatment may improve the prognosis of these disorders. ? 2011 The Japanese Society of Child Neurology. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-80052511443&doi=10.1016%2fj.braindev.2011.06.014&partnerID=40&md5=98c135a71672c364369cfb61e3180b51 https://scholars.lib.ntu.edu.tw/handle/123456789/527396 |
ISSN: | 0387-7604 | DOI: | 10.1016/j.braindev.2011.06.014 | SDG/關鍵字: | 4 aminobutyric acid; 5 hydroxytryptophan; anticonvulsive agent; benzoic acid; dextromethorphan; imipramine; ketamine; levodopa; monoamine; n methyl dextro aspartic acid receptor; phenylalanine; pyridoxine; serine; strychnine; succinate semialdehyde dehydrogenase; tetrahydrobiopterin; thiamine; vigabatrin; 3 phosphoglycerate dehydrogenase deficiency; 3 phosphoserine phosphatase deficiency; amino acid deficiency; amino acid metabolism; amino acid substitution; amino acid transport; anticonvulsant therapy; bioaccumulation; biosynthesis; citric acid cycle; clinical feature; corpus callosum; cystathioninuria; developmental stage; disease association; disorders of amino acid and protein metabolism; drug megadose; early intervention; epilepsy; epileptic state; excitotoxicity; gray matter; homocystinuria; human; hyperglycinemia; hypermethioninemia; incidence; infantile spasm; Lennox Gastaut syndrome; maple syrup urine disease; Menkes syndrome; myoclonus seizure; neurotoxicity; oxidative stress; paroxysmal dystonia; pathogenesis; phenylketonuria; prognosis; protein restriction; protein synthesis; psychomotor retardation; review; seizure; sepiapterin reductase deficiency; succinic semialdehyde dehydrogenase deficiency; sulfite oxidase deficiency; tetrahydrobiopterin deficiency; treatment response; tyrosine hydroxylase deficiency; Zellweger syndrome; Amino Acid Metabolism, Inborn Errors; Epilepsy; Humans; Infant; Infant, Newborn |
顯示於: | 醫學系 |
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