{"title":"鸟氨酸转氨基甲酰基酶缺乏症。","authors":"Megan McCrillis, John D. Thompson","doi":"10.32388/qlmwqs","DOIUrl":null,"url":null,"abstract":"Ornithine transcarbamylase deficiency can become evident at any age. The most severe form occurs in the first few days of life. This neonatal-onset form of the disorder usually affects males; it is very rare in females. An infant with the neonatal-onset form of ornithine transcarbamylase deficiency may be lacking in energy (lethargic) or unwilling to eat, and have a poorly-controlled breathing rate or body temperature. Infants with this disorder may be described as \"floppy\" and can experience seizures or coma. Complications from ornithine transcarbamylase deficiency may include developmental delay and intellectual disability. Progressive liver damage may also occur.","PeriodicalId":79374,"journal":{"name":"Ryoikibetsu shokogun shirizu","volume":"86 1","pages":"395-7"},"PeriodicalIF":0.0000,"publicationDate":"2020-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Ornithine transcarbamylase deficiency].\",\"authors\":\"Megan McCrillis, John D. Thompson\",\"doi\":\"10.32388/qlmwqs\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Ornithine transcarbamylase deficiency can become evident at any age. The most severe form occurs in the first few days of life. This neonatal-onset form of the disorder usually affects males; it is very rare in females. An infant with the neonatal-onset form of ornithine transcarbamylase deficiency may be lacking in energy (lethargic) or unwilling to eat, and have a poorly-controlled breathing rate or body temperature. Infants with this disorder may be described as \\\"floppy\\\" and can experience seizures or coma. Complications from ornithine transcarbamylase deficiency may include developmental delay and intellectual disability. Progressive liver damage may also occur.\",\"PeriodicalId\":79374,\"journal\":{\"name\":\"Ryoikibetsu shokogun shirizu\",\"volume\":\"86 1\",\"pages\":\"395-7\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2020-02-10\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Ryoikibetsu shokogun shirizu\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.32388/qlmwqs\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ryoikibetsu shokogun shirizu","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.32388/qlmwqs","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Ornithine transcarbamylase deficiency can become evident at any age. The most severe form occurs in the first few days of life. This neonatal-onset form of the disorder usually affects males; it is very rare in females. An infant with the neonatal-onset form of ornithine transcarbamylase deficiency may be lacking in energy (lethargic) or unwilling to eat, and have a poorly-controlled breathing rate or body temperature. Infants with this disorder may be described as "floppy" and can experience seizures or coma. Complications from ornithine transcarbamylase deficiency may include developmental delay and intellectual disability. Progressive liver damage may also occur.