摘要
尿素循环障碍是临床上较为常见的一类遗传代谢病,是由于尿素循环相关6种主要酶的基因突变导致氨基酸分解代谢产生的氨不能通过尿素循环形成尿素排出体外,导致患儿出现血氨增高,引起一系列以脑功能障碍（拒乳、呕吐、嗜睡、昏迷、惊厥、共济失调、攻击性行为）为突出临床表现的一类疾病,是儿童高氨血症最常见的遗传学病因,总发病率约为1/30000.该病临床症状的严重程度与酶缺陷的程度呈正相关,酶的缺陷越重,患儿就发病越早,病情越重,部分轻度酶缺陷患儿可以出现间歇性发病或晚发病.由于高氨血症对神经系统损伤严重,因此早期诊断和治疗是改善预后,挽救患儿生命的关键.
Urea cycle disorder is a common inherited metabolic disorder,and it is the most common genetic cause of hyperammoniema in children.The illness is believed to be caused by gene mutation of six main enzymes in urea cycle,leading to ammonia,which is produced by amino acid catabolism,can＇t conver to urea through the urea cycle and be discharged through the urine.The manifestations of hyperammonemia turn out to be disorders of brain function （refusing to milk,vomiting,drowsiness,coma,convulsions,ataxia,aggressive behaviors）.The incidence of this disease is 1/30 000.At the same time,the severity of the clinical symptoms is connected with the extent of the enzymes defects.More serious the enzymes defected,the earlier and worse the disease onsets.Some children with mild enzyme defects may intermittently attack or have a delay onset.Serious nervous system injuries can be found in hyperammonernia,therefore,early diagnosis and treatment must be ensured in order to decrease risk of mental injuries and damages or acute deaths.
出处
《中国小儿急救医学》
CAS
2014年第6期354-357,共4页
Chinese Pediatric Emergency Medicine
关键词
尿素循环障碍
高氨血症
遗传代谢病
Urea cycle disorder
Hyperammonemia
Inherited metabolic diseases
