Latest progress in the analysis of pathogenesis of citrullinemia,early screening methods and the impact of clinical treatment on prognosis
Citrullinemia is an autosomal recessive hereditary disease,with the clinical manifestations of increased blood concentration of citrulline,leading to a series of urea cycle disorders.At present,the pathogenesis of citrullinemia has not been elucidated clinically.It can be classified into type Ⅰ and type Ⅱ,showing obvious differences between the two.Both type Ⅰ and type Ⅱ citrullinemia are manifested by abnormally elevated serum citrulline levels,with significant differences in clinical symptoms and onset time.Cholestatic jaundice often occurs in infancy,which may be accompanied by mild liver swelling.Adult onsets of citrullinemia are mostly manifested as weight loss,dietary preferences,etc.In severe cases,it causes memory impairment and confusion,resulting in a high mortality.Current clinical treatments of citrullinemia mainly include diet treatment,symptomatic treatment and liver transplantation.Different treatment methods have their own advantages and disadvantages,and most patients can benefit from them.This review summarized the pathogenesis and clinical manifestations of citrullinemia,and discussed the early screening methods and treatment methods of citrullinemia on the prognosis.
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