Diagnosis and treatment of urea cycle disorder and hyperammonemia
10.3760/cma.j.issn.1673-4912.2014.06.005
- VernacularTitle:尿素循环障碍及高氨血症的诊断与处理
- Author:
Hu HAO
;
Xin XIAO
- Publication Type:Journal Article
- Keywords:
Urea cycle disorder;
Hyperammonemia;
Inherited metabolic diseases
- From:
Chinese Pediatric Emergency Medicine
2014;21(6):354-357
- CountryChina
- Language:Chinese
-
Abstract:
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.
