Your child will receive a complete evaluation to establish or confirm a precise diagnosis and determine how much the disease has affected the child. Because we work as a team at the Center for Rare Disease Therapy, during your visit your child may be seen by several doctors and other health care professionals, including a neurologist, a heart specialist, a surgeon, a nutritionist, a genetic counselor, a psychologist, and a specialist in child development.
We understand that the whole family is affected when a child has a rare disease. We see each family as our partner in caring for their child. We will talk with you about what we think is likely to happen with your child in the near future and about options we can suggest for treating and caring for your child. If surgery is an option for your child, we will help you understand what the surgery entails and what you may need to do to prepare for it.
We will also talk with you about what you can do at home to care for your child and improve his or her quality of life. You will be introduced to our clinical nurse practitioner, who is available by phone or video conference to help you with any concerns you have between now and your next appointment.
Depending upon the types of tests that the doctors order, you can expect to receive a phone call within 2 weeks to explain test results and discuss recommended next steps. Test results are also made available on Children's patient portal, myCHP , which is provided at no cost to patients, parents, and guardians. At the Center for Rare Disease Therapy, every child diagnosed with a rare disease receives an individualized treatment plan and family-centered care.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:. Pittsburgh, PA In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region. For general information and inquiries , please call To make an appointment , please call from 7 a.
Monday through Friday. Going to the doctor often, and getting regular blood tests, helps keep everything in check. The PKU diet is very restrictive. But it must be followed. Babies who start the diet soon after birth usually develop normally. Many show no symptoms of PKU. Support from friends and family or a PKU support group can be helpful when facing the challenges that come with this diet. This article was contributed by: familydoctor.
This information provides a general overview and may not apply to everyone. Talk to your family doctor to find out if this information applies to you and to get more information on this subject. Your newborn will go through screening tests at the hospital. The purpose is to find and treat certain health…. Visit The Symptom Checker. Read More. Fever in Infants and Children. Vomiting and Diarrhea.
Table of Contents. What is phenylketonuria PKU? What causes phenylketonuria? How is phenylketonuria diagnosed? Nearly all cases of PKU are diagnosed through this newborn blood test. Can phenylketonuria be prevented or avoided? The main way to treat PKU is to eat a special diet that limits foods containing phenylalanine. Infants with PKU may be fed breast milk. They usually also need to consume a special formula known as Lofenalac. When your baby is old enough to eat solid foods, you need to avoid letting them eat foods high in protein.
These foods include:. It contains all the amino acids that the body needs, except for phenylalanine. There are also certain low-protein, PKU-friendly foods that can be found at specialty health stores. People with PKU will have to follow these dietary restrictions and consume PKU formula throughout their lives to manage their symptoms. People with PKU need to work closely with a doctor or dietitian to maintain a proper balance of nutrients while limiting their intake of phenylalanine.
They also have to monitor their phenylalanine levels by keeping records of the amount of phenylalanine in the foods they eat throughout the day. Some state legislatures have enacted bills that provide some insurance coverage for the foods and formulas necessary to treat PKU. Check with your state legislature and medical insurance company to find out if this coverage is available for you.
Sapropterin helps lower phenylalanine levels. 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. People with PKU need to follow a diet that limits foods with phenylalanine.
The diet should be followed carefully and be started as soon after birth as possible. In the past, experts believed that it was safe for people to stop following the diet as they got older. However, they now recommend that people with PKU stay on the diet throughout their lives for better physical and mental health.
It is especially important for a pregnant woman with PKU to strictly follow the low-phenylalanine diet throughout her pregnancy to ensure the healthy development of her infant.
People with PKU also need to avoid the sweetener aspartame, which is in some foods, drinks, medications, and vitamins.
Aspartame releases phenylalanine when it is digested, so it raises the level of phenylalanine in a person's blood. Often, people with PKU also have to limit their intake of lower-protein foods, such as certain fruits and vegetables. However, a PKU diet can include low-protein noodles and other special products. The amount of phenylalanine that is safe to consume differs for each person.
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