Health Insights

May 28, 2020May 28, 2020

Support Groups for Phenylketonuria

Health Insights

Rare and chronic diseases such as phenylketonuria (PKU) have an emotional side. Between symptoms, caregiving, and feelings of isolation, coping can be a challenge. It may seem as if hardly ... Read more

May 21, 2020May 21, 2020

Why Do I Need Genetic Counseling if My Baby Has PKU?

Health Insights

If your newborn is diagnosed with phenylketonuria (PKU), it’s important for you and your partner to receive genetic counseling. What is genetic counseling? Genetic counseling helps you to understand how a ... Read more

May 14, 2020June 11, 2020

What Is Newborn Screening and Why Is it so Important in Phenylketonuria?

Health Insights

In most countries, including across the U.S., Europe, and Asia, a child shortly after birth will undergo testing for phenylketonuria (PKU) at birth. Here are some things to know about newborn ... Read more

May 6, 2020May 12, 2020

How Does Enzyme Replacement Therapy Work for PKU?

Health Insights

Phenylketonuria (PKU) is a rare genetic disorder characterized by abnormally high levels of phenylalanine (a protein building block, also called an amino acid) in the body. There is currently no ... Read more

April 30, 2020April 30, 2020

What Are the Treatment Options for Phenylketonuria?

Health Insights

Phenylketonuria (PKU) is a rare inherited metabolic disorder characterized by the buildup of an amino acid called phenylalanine (one of the building blocks of protein) in the body. We get ... Read more

April 16, 2020April 22, 2020

Keeping a Phenylketonuria Food Diary

Health Insights

As the caregiver of a child who has phenylketonuria (PKU), you know that your child requires a nutrition plan that restricts certain foods. Maintaining a PKU food diary can help ... Read more

April 7, 2020April 9, 2020

Nutrition Plan for Children with Phenylketonuria

Health Insights

Because babies born in the U.S. and many other countries are screened for phenylketonuria (PKU) at birth, you likely learned early on that your child requires a strict diet to prevent ... Read more

April 2, 2020April 2, 2020

What Do Doctors Look for in a Phenylketonuria Test?

Health Insights

When babies are born, they undergo a newborn screening that tests them for certain heritable health conditions. In order to do this screen, doctors take a small drop of blood from ... Read more

March 25, 2020March 26, 2020

My Baby Has Been Diagnosed with Phenylketonuria, Now What?

Health Insights

When they are born, all babies undergo a newborn screening, which tests them for certain conditions. To do this, doctors perform a heel stick, usually on the first day the baby ... Read more

January 7, 2020January 7, 2021

About the PKU Registry for Pregnant Women and its Goals

Health Insights

Phenylketonuria (PKU) is a rare disease. It, therefore, is essential to gather information about its progression and the long-term effects of certain treatments. Researchers designed the maternal phenylketonuria observational program ... Read more