What kinds of diets do children with PKU need to adopt? Is there a medication that may help children with PKU? How common is PKU? Who is at risk for PKU? Before signs are apparent, however, the brain may already be damaged, so treatment needs to begin during the first weeks of life before this happens Symptoms of PKU can include: IQ loss severe intellectual disabilities skin rashes eczema pale skin and blue eyes Phenylalanine usually turns into melanin which gives color to hair and skin tone.
PKU prevents phenylalanine from turning into melanin. Q: What is maternal PKU? Q: What is treatment like? Q: What are some potential side effects of the PKU diet? What are potential side effects from treatment?? Questions to ask your doctor The PKU diet is complicated and hard to manage. Here are some questions to get you started: What exactly can my child eat and not eat? What supplements will he take? What advice can you give on helping my child stick to his diet?
Will my child need to avoid certain medications if he gets sick? How can I help my child cope? The commitment and compassion with which we care for all children and families is matched only by the pioneering spirit of discovery and innovation that drives us to think differently, to find answers, and to build a better tomorrow for children everywhere.
Kevin B. Churchwell, President and CEO. Without dietary treatment, phenylalanine can build up to harmful levels in the body, causing mental retardation and other serious problems. Women who have high levels of phenylalanine during pregnancy are at high risk for having babies born with mental retardation, heart problems, small head size microcephaly and developmental delay.
This is because the babies are exposed to their mother's very high levels of phenylalanine before they are born. Newborn screening has been used to detect PKU since the 's.
As a result, the severe signs and symptoms of PKU are rarely seen. Symptoms of PKU range from mild to severe. Infants born with classic PKU appear normal for the first few months after birth. However, without treatment with a low-phenylalanine diet, these infants will develop mental retardation and behavioral problems. Other common symptoms of untreated classic PKU include seizures, developmental delay, and autism.
Boys and girls who have classic PKU may also have eczema of the skin and lighter skin and hair than their family members who do not have PKU.
Babies born with less severe forms of PKU moderate or mild PKU may have a milder degree of mental retardation unless treated with the special diet. If the baby has only a very slight degree of PKU, often called mild hyperphenylalaninemia, there may be no problems and the special dietary treatment may not be needed. The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.
From Genetics Home Reference. Description Phenylketonuria commonly known as PKU is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Frequency The occurrence of PKU varies among ethnic groups and geographic regions worldwide.
Causes Mutations in the PAH gene cause phenylketonuria. Learn more about the gene associated with Phenylketonuria PAH. Inheritance This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. Research Studies from ClinicalTrials. References Blau N. Genetics of Phenylketonuria: Then and Now. Hum Mutat. Epub Mar Citation on PubMed Cederbaum S. Phenylketonuria: an update. Curr Opin Pediatr.
The Maternal Phenylketonuria Project: a summary of progress and challenges for the future. Management of phenylketonuria and hyperphenylalaninemia.
J Nutr. Adult phenylketonuria.
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