This medication must be used in combination with a special PKU meal plan. This can lead to various problems in the baby, including:. The long-term outlook for people with PKU is very good if they follow a PKU meal plan closely and shortly after birth.
When diagnosis and treatment are delayed, brain damage may occur. Untreated PKU can also eventually cause:. However, an enzyme assay can be done for people who plan on having children. An enzyme assay is a blood test that can determine whether someone carries the defective gene that causes PKU. The test may also be done during pregnancy to screen unborn babies for PKU. Thalassemia is a blood disorder in which the body makes an abnormal form of hemoglobin.
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Here's what you should know. Mermaid syndrome is a severe and often fatal congenital abnormality involving fused limbs, which have been described as resembling a mermaid's tail. Health Conditions Discover Plan Connect. Because nerve cells in the brain are particularly sensitive to phenylalanine levels, excessive amounts of this substance can cause brain damage. Classic PKU, the most severe form of the disorder, occurs when phenylalanine hydroxylase activity is severely reduced or absent.
People with untreated classic PKU have levels of phenylalanine high enough to cause severe brain damage and other serious health problems. Mutations in the PAH gene that allow the enzyme to retain some activity result in milder versions of this condition, such as variant PKU or non-PKU hyperphenylalaninemia. Changes in other genes may influence the severity of PKU, but little is known about these additional genetic factors.
This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Genetics Home Reference has merged with MedlinePlus. Learn more. 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. A: The answer depends on who your child has a baby with.
PKU is a recessive disease, meaning that the child with PKU gets two abnormal genes, one from each parent. If your child has a baby with someone who does not have a PKU gene has two normal genes none of the babies will have PKU. Following the strict diet can be difficult, and may lead to stress and anxiety.
If it is followed correctly there should not be any physical effects on the body. The PKU diet is complicated and hard to manage. For Patients. Fax Number International Contact the Metabolism Program What is PKU?
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? Recognizing PKU right away can help prevent major health problems.
Newborns with PKU initially don't have any symptoms. However, without treatment, babies usually develop signs of PKU within a few months.
But most children with the disorder still require a special PKU diet to prevent intellectual disability and other complications. If women don't follow the special PKU diet before and during pregnancy, blood phenylalanine levels can become high and harm the developing fetus or cause a miscarriage.
Babies born to mothers with high phenylalanine levels don't often inherit PKU. But they can have serious consequences if the level of phenylalanine is high in the mother's blood during pregnancy.
Complications at birth may include:. There is a problem with information submitted for this request. Subscribe for free and receive your in-depth guide to digestive health, plus the latest on health innovations and news.
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