Clinical Phenotype of Different Hyperphenylalaninemia Patients / 实用儿科临床杂志

ABSTRACT

Objective To explore clinical characteristics of phenylalanine hydroxylase(PAH) deficiency in differential diagnosis among hyperphenylalaninemia(HPA) patients and compare the responses to diet treatment in HPA patients.Methods Tetrahydrobiopterin(BH4,20 mg/kg) loading test or combined phenylalanine(Phe,100 mg/kg) and BH4 loading test was carried out among 44 HPA patients.The urine pterine profile analysis and dihydropteridine reductase(DHPR) activity in dry blood filter spot were analyzed simultaneously.Electroencephalogram(EEG) and average full scale development quotient(DQ) were performed in all patients.PAH deficiency patients were given low Phe diet treatment to decrease Phe level for 120-360 ?mol/L and followed up their Phe tolerance.Results Twelve BH4 responsive PAH deficiency patients were diagnosed who were 7 males and 5 females,mean age was 7.8 months.Their metabolic phenotype was moderate or mild HPA.Diet control could decrease Phe level among BH4 deficiency patients but not prevent their neural damage and their EEG abnormal rate was higher.BH4 responsive patients had higher DQ than others and their Phe tolerance increased during diet treatment.Conclusions BH4 responsive PAH deficiency patients can obtain better purpose with diet recipe.The differential diagnosis for BH4 deficiency shall be carried out in all patients with HPA as soon as possible.