Moms and future moms with rare inherited disorder aim for healthy babies

Woodruff Health Sciences Center | Aug. 13, 2017

Millie Foster also has PKU and attended Emory Metabolic Camp as a teenager. Today she's a dietitian and spends part of her summer as a counselor at the camp. She's thinking about starting a family and is aware of Maternal PKU Syndrome.

Growing up, Martha Stanojevich had to face the challenge of living with a condition called phenylketonuria, PKU for short. PKU is a rare inherited disorder where a person lacks a crucial enzyme needed to break down an amino acid called phenylalanine. When PKU is not controlled properly, high levels of phenylalanine, or Phe, are toxic to both the brain and body and can lead to serious health complications.

The management of PKU involves adherence to a strict diet designed to keep Phe levels under control and forestall any of the health complications of the disorder. This type of diet, requiring restrictions on what you can eat and precise measurement of food, is a challenge in and of itself. Fortunately for Stanojevich, as a teenager she had grown up attending Emory's annual summer Metabolic Camp, tailored for young women with inherited metabolic disorders, including PKU.

At the camp, Stanojevich learned not only how to care for her own health, but how to assure that she could have a healthy baby, when and if she decided to have children in the future.

"I remember learning at a very young age about the importance of dietary control during pregnancy, and it was something that was reinforced time and time again as I was here," she says. "And so when it became time for my husband and I to plan our first pregnancy, we had good knowledge of what to expect and knew that planning was essential."

Pregnant women with PKU face special challenges like the threat of having a child with developmental delays even if the baby doesn't have PKU. Maternal PKU refers to any number of fetal abnormalities that result from an expecting mother with PKU who has excessive Phe levels in her blood. So even though a woman with PKU may not have symptoms herself, because she's adhered to a restrictive diet throughout her youth, her baby could still face devastating consequences if she lapses during pregnancy.

Millie Foster also has PKU and attended Metabolic Camp as a teenager. Today she's a dietitian and spends part of her summer as a counselor at the camp. She's thinking about starting a family and is aware of Maternal PKU Syndrome.

"I'm very vigilant about that right now. It's given me a really good reason, a good motivation, to track my Phe levels on a daily basis and to watch what I eat and to do whatever it takes to have a healthy baby."

Stanojevich has given birth to one healthy daughter and is expecting her second. "I knew going into the pregnancy — because of camp — the risks for a child with a mother that has PKU, including microcephaly, which is a small head, which also leads to cognitive development issues, and I knew that congenital heart defects is a risk, as well as slight risk of craniofacial deformities and growth restriction."

But she is sticking closely to every guideline related to the management of PKU to prevent Maternal PKU Syndrome. "I think the most important things that I've done in both pregnancies is tracking my daily intake. I weigh and measure everything that I eat and then I track it every single day and I also count milligrams of Phe, which is the most precise measurement."

"It's so important for the mother to be on a strict diet and have her Phe levels under control to avoid the toxicity to the developing baby," says Rani Singh, PhD, RD, director of Emory's Genetics Metabolic Nutrition Program.

Twenty-three years ago, Singh founded the camp Foster and Stanojevich attended. "Metabolic Camp has had a tremendous impact not only on the quality of life of girls over the years but also on the outcome of the next generation of their children," she says.