Phenylketonuria and pregnancyPPhenylketonuria and pregnancyPhenylketonuria and pregnancyEnglishPregnancyAdult (19+)BodyReproductive systemConditions and diseasesPrenatal Adult (19+)NA2009-09-11T04:00:00ZNicolette Caccia, MEd, MD, FRCSCRory Windrim, MB, MSc, FRCSC12.000000000000032.0000000000000320.000000000000Flat ContentHealth A-Z<p>Read about the effect of phenylketonuria in a baby, how phenylketonuria is treated, and the importance of managing the condition.</p><p>Phenylketonuria is a genetic disorder where the body is unable to use an important amino acid called phenylalanine. Babies with phenylketonuria may develop early symptoms such as vomiting, irritability, and rash. There may be increased muscle tone and more active reflexes of the muscle tendons. If left untreated, the condition can cause intellectual disability, seizures, decreased body growth, and a smaller than normal head size. </p><h2>Key points</h2> <ul><li>Newborn screening, early diagnosis, and treatment are the keys to preventing the symptoms of phenylketonuria from occurring.</li> <li>High phenylalanine levels during pregnancy are harmful to the developing baby.</li> <li>If you are of childbearing age and you have phenylketonuria, talk to your doctor to make sure that you are eating a proper diet with low enough levels of phenylalanine.</li></ul>
Phénylcétonurie et grossessePPhénylcétonurie et grossessePhenylketonuria and pregnancyFrenchPregnancyAdult (19+)BodyReproductive systemConditions and diseasesPrenatal Adult (19+)NA2009-09-11T04:00:00ZNicolette Caccia, MEd, MD, FRCSC Rory Windrim, MB, MSc, FRCSC12.000000000000032.0000000000000320.000000000000Flat ContentHealth A-Z<p>Prenez connaissance des effets de la phénylcétonurie sur le bébé; apprenez comment la maladie est traitée et pourquoi il est important de bien la gérer.</p><p>La phénylcétonurie est un trouble génétique qui ne déclare lorsque le corps est dans l’incapacité d’utiliser un aminoacide important appelé phénylalanine. Les bébés atteints de phénylcétonurie sont susceptibles de développer des symptômes précoces tels que des vomissements, de l’irritabilité et de l’érythème. On peut aussi noter une augmentation de la tonicité, ainsi que des réflexes plus actifs dans les tendons musculaires. S’il n’est pas traité, ce trouble peut provoquer une arriération mentale, des convulsions, une diminution de la croissance corporelle et la formation d’une tête de taille plus petite que la normale. </p><h2>À retenir</h2> <ul><li>Le dépistage chez le nouveau-né, le diagnostic précoce et le traitement sont les éléments clés pour prévenir que les symptômes de phénylcétonurie surgissent.</li> <li>Des niveaux élevés de phénylalanine en cours de grossesse sont nuisibles au développement du bébé.</li> <li>Si vous êtes en âge de procréer et que vous êtes atteinte de phénylcétonurie, consultez votre médecin afin de vous assurer que vous consommez une alimentation adéquate comprenant des niveaux de phénylalanine suffisamment bas. </li></ul>

 

 

Phenylketonuria and pregnancy365.000000000000Phenylketonuria and pregnancyPhenylketonuria and pregnancyPEnglishPregnancyAdult (19+)BodyReproductive systemConditions and diseasesPrenatal Adult (19+)NA2009-09-11T04:00:00ZNicolette Caccia, MEd, MD, FRCSCRory Windrim, MB, MSc, FRCSC12.000000000000032.0000000000000320.000000000000Flat ContentHealth A-Z<p>Read about the effect of phenylketonuria in a baby, how phenylketonuria is treated, and the importance of managing the condition.</p><p>Phenylketonuria is a genetic disorder where the body is unable to use an important amino acid called phenylalanine. Babies with phenylketonuria may develop early symptoms such as vomiting, irritability, and rash. There may be increased muscle tone and more active reflexes of the muscle tendons. If left untreated, the condition can cause intellectual disability, seizures, decreased body growth, and a smaller than normal head size. </p><h2>Key points</h2> <ul><li>Newborn screening, early diagnosis, and treatment are the keys to preventing the symptoms of phenylketonuria from occurring.</li> <li>High phenylalanine levels during pregnancy are harmful to the developing baby.</li> <li>If you are of childbearing age and you have phenylketonuria, talk to your doctor to make sure that you are eating a proper diet with low enough levels of phenylalanine.</li></ul><p>Newborn screening, early diagnosis, and treatment are the keys to preventing the symptoms of phenylketonuria from occurring. Newborn babies should be screened for their phenylalanine levels about three days after birth. Treatment consists of eating a special diet that is low in phenylalanine. This is a life-long treatment and most adults who follow their treatment plan have normal or near-normal intellectual function. </p> <p>Unfortunately, by the late teen years, many people with phenylketonuria lose interest in the low phenylalanine diet, and they may stop adhering to the diet altogether. This includes young women who are of childbearing age. When people with phenylketonuria stop eating their special foods, their phenylalanine levels can shoot up above the recommended levels. This is a concern during pregnancy because high phenylalanine levels are harmful to the developing baby. High phenylalanine levels in the pregnant mother can cause intellectual disability, small head size, heart defects, and low birth weight in the unborn baby. </p> <p>If you are of childbearing age and you have phenylketonuria, talk to your doctor to make sure that you are eating a proper diet with low enough levels of phenylalanine. This is especially important if you are considering becoming pregnant, or if you are already pregnant. Ideally, your diet should be taken care of before conception. While you are pregnant, your doctor should work in conjunction with physicians from experienced phenylketonuria centres, to make sure that you receive the best counselling for your condition. Ultrasound can be used to help detect any abnormalities in the unborn baby during pregnancy. </p>https://assets.aboutkidshealth.ca/AKHAssets/phenylketonuria_and_pregnancy.jpgPhenylketonuria and pregnancy

Thank you to our sponsors

AboutKidsHealth is proud to partner with the following sponsors as they support our mission to improve the health and wellbeing of children in Canada and around the world by making accessible health care information available via the internet.