Posts by: Emily Malcolm

Health Insights

Phenylketonuria (PKU) is a rare genetic disease, due to an inability to break down phenylalanine, a protein building block. High levels of phenylalanine can cause permanent mental disability. Even in ... Read more

August 20, 2020August 20, 2020

Learning Disabilities in Phenylketonuria and How to Cope With Them

Health Insight

Children with phenylketonuria (PKU) may have learning disabilities because, without treatment, the condition can cause damage to the brain and nervous system. As a parent or caregiver, it’s important to ... Read more

August 6, 2020August 6, 2020

Phenylketonuria and Exercise

Health Insights

Patients with phenylketonuria (PKU) are unable to metabolize phenylalanine, a protein building block, also called an amino acid. They have to be extremely careful to maintain a low-phenylalanine diet. This ... Read more

July 23, 2020July 23, 2020

What Is Genetic Testing for Phenylketonuria?

Health Insights

The vast majority of babies have a phenylketonuria (PKU) test at birth to assess for the inherited disorder. In most countries in the world, this is part of newborn screening. ... Read more

July 16, 2020July 16, 2020

Phenylketonuria and Pregnancy

Health Insights

If you are an expectant mother with phenylketonuria (PKU), you may be concerned about the risks the inherited disease might impose on your pregnancy and your baby. PKU is a ... Read more

July 9, 2020July 9, 2020

Will Phenylketonuria Affect My Child’s Lifespan?

Health Insights

If your child was diagnosed with phenylketonuria (PKU) shortly after birth, you may be worried about how the disease could affect their lifespan. Many factors can affect a person’s lifespan, ranging from ... Read more

July 2, 2020July 9, 2020

We Are Both Carriers of PKU. What Are Our Reproductive Options?

Health Insights

If you and your partner are both carriers for phenylketonuria (PKU), you should meet with a genetic counselor. The counselor can tell you about your risks of passing the disease to ... Read more

June 18, 2020June 18, 2020

Preparing for Doctor Visits When You Have a Child With PKU

Health Insights

If your child has been diagnosed with phenylketonuria (PKU), you may be wondering what information is best to bring to a doctor’s appointment, and how you should prepare. Upon a diagnosis, ... Read more

June 4, 2020June 4, 2020

How Does Ethnicity Affect Risk of Inheriting Phenylketonuria?

Health Insights

Phenylketonuria (PKU) is a rare, heritable disorder characterized by the buildup of an amino acid called phenylalanine in the body. (Amino acids are building blocks of proteins). This buildup can ... 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