两名成年兄弟姐妹中表现为昏迷的家族性赖氨酸尿蛋白不耐受症。
Familial lysinuric protein intolerance presenting as coma in two adult siblings.
作者信息
Shaw P J, Dale G, Bates D
机构信息
Department of Neurology, University of Newcastle upon Tyne, UK.
出版信息
J Neurol Neurosurg Psychiatry. 1989 May;52(5):648-51. doi: 10.1136/jnnp.52.5.648.
Abstract
Lysinuric protein intolerance (LPI) is an inborn error of metabolism which usually presents in infancy with failure to thrive and vomiting. Two patients are described who presented in adult life with hyperammonaemic coma due to LPI. Both had been underweight and had had intermittent gastrointestinal symptoms during childhood. They were of normal intellect and had maintained good health, until presentation in their thirties, by unconscious dietary protein avoidance. The diagnosis of LPI should be considered in patients who present with obscure relapsing coma associated with hyperammonaemia. Considerable clinical improvement may result from dietary protein restriction and citrulline supplementation.
摘要
赖氨酸尿性蛋白不耐受症（LPI）是一种先天性代谢紊乱疾病，通常在婴儿期表现为生长发育迟缓及呕吐。本文描述了两名成年患者，他们因LPI出现高氨血症昏迷。两人童年时均体重不足，并有间歇性胃肠道症状。他们智力正常，通过无意识地避免摄入膳食蛋白质，在三十多岁发病前一直保持健康。对于出现与高氨血症相关的不明原因复发性昏迷的患者，应考虑LPI的诊断。限制膳食蛋白质摄入并补充瓜氨酸可能会使临床症状得到显著改善。
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Pediatr Res. 1968 Nov;2(6):525-34. doi: 10.1203/00006450-196811000-00011.
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