PKU (Phenylketonuria, PKU) FAQ

Prenatal diagnosisQ * Will phenylketonuria at check-check it out when you can do?A * due to congenital anomalies are many reasons, there is not no family history of the disease for all congenital fetal anomaly detection, unless you already know someone in phenylketonuria patients and found mutations on the gene location, is it possible to provide for your baby prenatal check phenylketonuria. We recommend that you can be close to genetic counseling centers for further consultation.
 Newborn ScreeningQ * as told by hospitals to report suspected suffering from phenylketonuria newborn screening is required again to re-examination. I ask you:1 to the current screening devices or whether the process will be errors or mistakes?(2) the domestic positive initial screening out the false positive probability is about how much?3 again after re-examination to determine the probability of positive or what percentage?4, such as whether poor neonatal liver can also cause metabolic initial inspection is positive?5 Because twenty-three days before breastfeeding posture, resulting in baby milk supply is very limited indeed absorbed (Unknown inspection required before breast-feeding full 48 hours), whether this will result in an initial inspection of the results of this generation?A * newborn screening for phenylketonuria positive cases may be due to liver dysfunction caused by a temporary increase in the concentration of phenylalanine, or because of congenital metabolic enzyme phenylalanine deficiency leads to high amphetamine acidosis (Hyperphenylalaninemia) and therefore need further referral. National Taiwan University Hospital, 93-94 years of experience, into the re-examination work (to be taken a second blood films) of every hundred, about 42 people identified as high amphetamine acidosis, as to enter the confirmation operation (subject to the hospital do confirm the diagnosis) of eight people, eight were identified as high amphetamine acidosis. We understand the concerns of parents, suggests that parents work with the re-examination, re-examination report on the results the first patient is appropriate.Q * I am a patient suspected positive phenylketonuria families, children born in March after screening three values ​​are 2.0 times, to the hospital after re-examination, in May back to hospital that blood is normal, but the urine for drug type. Will Since normal blood, which means that phenylketonuria insufficient concentration, why urine value will be high? Typical phenylketonuria do this count? Newborn blood screening that they represent what? Altogether in order to judge the urine like, why 2.0 or less normal blood, it is determined as abnormal?A * Since we do not see your child's urine test results, so no way of knowing the exact situation. In general, newborn screening is to look at the value of phenylalanine in the blood is increased, if the rising phenomenon, which means that phenylalanine metabolism pathway hinder it. But phenylalanine metabolic pathway obstruction causes, there may be metabolic enzyme phenylalanine itself wrong, or this enzyme cofactor manufacturing problems, also, or the child's liver enzymes metabolize the amino acids in the neonatal period not yet mature due. Urine test is usually producing coenzyme order to identify whether there is a problem in the differential diagnosis of which is an important examination. Fortunately, your child amphetamine acid is not high, may represent your child if coenzyme metabolic pathway is not very smooth, but for kids the body's metabolism of phenylalanine, pretty enough, but when in poor physical condition, such as illness cold time, will have to check whether there is a rising phenylalanine phenomenon. Recommend that you check again urine, and confirm the status of coenzyme metabolic pathways, if you have additional questions, please communicate with your physician for further discussion.
 TreatmentQ * Will be judged if the newborn is typical PKU, whether it may be false positive? Do they need to re-examine? May heal you grow up? Do a liver transplant can cure? Way to cure the current classic PKU What?A * If the newborn screening found to have abnormal increase in phenylalanine will then notify the confirmation and differential diagnosis to receive specialist clinical assessment, and blood and urine tests and analysis related to the content of amino acids, and will then conducted a number of inspections to step into a distinction is typical (PAH deficiency) or drug type (BH4 deficiency) in patients with phenylketonuria. PKU is autosomal recessive congenital metabolic disorders, growth will not be healed, if recognized as patients receiving early dietary protein restriction therapy, can have good results. Current clinical liver transplantation as a treatment is not the way, if the examination and treatment of the doubt, and then discussed with the attending physician.
 Disease CareQ * Can I ask, what factors will cause PKU disease in children speaking and walking road barriers, as well as lighter hair color and a musty causes it?A * You mentioned symptoms associated with PKU is associated with in vivo phenylalanine (phenylalanine; Phe) value is too high for, but if the amount of this amino acid in the body control is good, there will not be mentioned in your Symptoms produced, Thank you for your letter.Q * Will the current prognosis of PKU in Taiwan?A * PKU patients by the lack of an enzyme can be divided into PAH deficiency (treatment depends mainly on diet control), and BH4 deficiency (treatment comprising administering BH4, may need to be controlled with diet to achieve the desired concentration of phenylalanine in the blood). At present, due to the implementation of newborn screening, and PKU patients can get early diagnosis and treatment, so most of them can have good growth and development and academic performance.