Phenylketonuria (PKU) is an inherited disorder that affects the way the body processes protein. It is caused by a deficiency of an enzyme called phenylalanine hydroxylase, which is necessary for the metabolism of an amino acid called phenylalanine. Phenylalanine is found in many proteins and is also present in artificial sweeteners.
In individuals with PKU, the body is unable to properly break down phenylalanine, leading to a build-up of the amino acid in the blood and body tissues. This can lead to serious health problems, including intellectual disability, seizures, and behavioral problems. PKU can also cause abnormalities in the skin, eyes, and nails, and can lead to a musty or "mousy" body odor.
PKU is an autosomal recessive disorder, which means that an individual must inherit two copies of the defective gene (one from each parent) in order to develop the condition. If an individual has only one copy of the defective gene, they are a carrier of the disorder but do not have PKU themselves.
PKU is diagnosed through newborn screening, which is performed shortly after birth. If PKU is diagnosed, treatment involves a special diet that is low in phenylalanine. This diet must be followed strictly in order to prevent the build-up of phenylalanine in the body and to prevent the development of serious health problems. The diet usually involves the use of a medical formula that is low in phenylalanine and the careful selection of protein sources. It is important for individuals with PKU to work closely with a healthcare team that includes a physician, dietitian, and other healthcare professionals to ensure that their diet is nutritionally balanced and meets their needs.
PKU is a treatable condition, but it requires lifelong management. It is important for individuals with PKU to follow their diet and take any necessary medications as prescribed in order to maintain good health. With proper treatment and management, individuals with PKU can lead normal lives.
Nobel and Pulitzer Prize winning author The Child Who Never Grew. Only a few drops of blood are necessary for this test. American Journal of Clinical Nutrition. Otherwise, it will increase the level of phenylalanine in the blood. New York: McGraw Hill Medical. People must adhere to a special diet low in Phe for optimal brain development.
Living With How do I take care of myself? Dietary protein and protein substitute requirements in adults with phenylketonuria: A review of the clinical guidelines. Affected children who are detected at birth and treated are much less likely to develop neurological problems or have seizures and intellectual disability though such clinical disorders are still possible including asthma, eczema, anemia, weight gain, renal insufficiency, osteoporosis, gastritis, esophagus, and kidney deficiencies, kidney stones, and hypertension. This reduces the risk of high blood phenylalanine levels harming their unborn babies. Eunice Kennedy Shriver National Institute of Child Health and Human Development. United States Caucasians are affected at a rate of 1 in 10,000. American Journal of Human Genetics. Autosomal recessive inheritance pattern To have an autosomal recessive disorder, you inherit two changed genes, sometimes called mutations.
The diet requires restricting or eliminating foods high in Phe, such as Different people can tolerate different amounts of Phe in their diet. Phenylketonuria: Current treatments and future developments. Phenylketonuria affects about 1 in 12,000 babies. To increase energy intake in these patients, you can use jams, honey, oils, and other foods that do not contain phenylalanine. Their health is rarely affected because they have only one changed gene. They have a 50% chance of having an unaffected child who also is a carrier middle. Orphanet Journal of Rare Diseases.
. Two parents must pass along a copy of the changed gene for their child to develop the condition. It may include a special diet or medication. Phenylketonuria was discovered by the In 1934 at His careful analysis of the urine of the two affected siblings led him to request many physicians near Oslo to test the urine of other affected patients. Make sure you follow your diet for your entire life to prevent symptoms that could be dangerous to your health. In mild or moderate forms, the enzyme still has some function, so phenylalanine levels are not as high, resulting in a smaller risk of significant brain damage. There is a problem with information submitted for this request.
In that case, it can lead to severe brain damage and mental retardation in the person. They have a 25% chance of having an affected child with two changed genes right. Orphanet Journal of Rare Diseases. Eunice Kennedy Shriver National Institute of Child Health and Human Development. Orphanet Journal of Rare Diseases. You should avoid foods that are high in protein, such as meat, eggs and dairy products. American Journal of Medical Genetics.
Teratology in the Twentieth Century Plus Ten. Hoppe-Seyler's Zeitschrift für Physiologische Chemie. Over 2,000 known genetic disorders in humans until now, If these patients are not treated, they will have several complications depending on the type of disease, and they can lead to mental retardation or physical retardation. Raised phenylalanine levels in the blood of pregnant women can have adverse effects on the fetus, such as heart problems or mental damage, or microcephaly in the fetus. Additionally, major depressive disorders occur 230% higher than controls; dizziness and giddiness occur 180% higher; chronic ischemic heart disease, asthma, diabetes, and gastroenteritis occur 170% higher; and stress and adjustment disorders occur 160% higher. Symptoms are worse among severe cases in those who are untreated. Since Phe is necessary for the synthesis of many proteins, it is required for appropriate growth, but levels must be strictly controlled.
For those who are on a restrictive diet, many people benefit from working closely with a dietician who can advise on the best foods to eat, what to avoid and how to get all the nutrients you need to stay healthy. The enzyme needed to break down phenylalanine is missing or severely reduced. You get one from each parent. This results in high levels of phenylalanine that can cause severe brain damage. Orphanet Journal of Rare Diseases. As mentioned, the best way to control more metabolic genetic diseases is to have a Phenylketonuria has no specific symptoms at the beginning of birth, and the patient is completely normal. Journal of Inherited Metabolic Disease.
Tyrosine, which is normally derived from phenylalanine and which is necessary for normal brain function, is usually supplemented. These substances affect the central nervous system and disrupt the normal functioning of the brain. When the phenylalanine level in the blood is abnormally high, it is converted to other compounds that are toxic to the body. If you or your child develops symptoms of phenylketonuria, contact your healthcare provider for a thorough evaluation. A phenylalanine screening test identifies levels of phenylalanine in your blood. The mother's daily Phe intake may double or even triple by the end of the pregnancy, as a result. For example, each diet soda can contain approximately 105 mg of phenylalanine, which provides approximately 25 to 50% of a person's daily requirement.
The American Journal of Clinical Nutrition. Molecular Genetics and Metabolism Reports. The acceptable phenylalanine level in the blood is varied and has a different range depending on each person's age. Phenylalanine is found in the body as part of normal biochemical pathways, but problems arise when levels are persistently higher than normal. When should I see my healthcare provider? This is achieved by performing regular blood tests and adhering very strictly to a diet, in general monitored on a day-to-day basis by a specialist metabolic dietitian.
