Diagnosis and treatment of urea cycle disorder and hyperammonemia / 中国小儿急救医学
Chinese Pediatric Emergency Medicine
;
(12): 354-357, 2014.
Article
in Chinese
| WPRIM
| ID: wpr-450519
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Diagnostic study
/
Screening study
Language:
Chinese
Journal:
Chinese Pediatric Emergency Medicine
Year:
2014
Type:
Article
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