Stories about: newborn screening

Phenylketonuria without the ‘phe’: Enzyme therapy offers chance at a better life

Kaylee Goodwin credits pegvaliase for changing her life — including her engagement.
Kaylee Goodwin credits pegvaliase for changing her life — including her engagement. “It’s to the point where I don’t even think I have PKU anymore,” she says.

Kaylee Goodwin, 29, has struggled her whole life to control her blood levels of “phe” — the amino acid known as phenylalanine. “I was told that if my levels were controlled, I would be able to think more clearly and feel better overall,” she says.

Goodwin was born with phenylketonuria (PKU), a genetic metabolic disorder affecting roughly 1 in 16,000 newborns. Her body can’t break down phe because of a genetic mutation disabling the necessary enzyme, phenylalanine hydroxylase (PAH).

If left untreated, phe accumulates in the brain, causing intellectual disability and seizures. But starting in the early 1960s, newborn screening programs have been able to test for PKU. Goodwin tested positive and was prescribed a special phe-free diet by Harvey Levy, MD, at Boston Children’s Hospital.

Through the diet, Goodwin has dodged serious brain damage and was able to attend college and start a career as a dancer and actress. But because phe is in nearly all naturally occurring proteins, she couldn’t eat meat, eggs, dairy products, legumes, most grains and many fruits and vegetables. Instead, she had to consume a foul-tasting amino acid formula.

“I spent my entire life carrying special foods and medical formula around with me, and weighing and measuring foods,” she says.

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BabySeq: Early results of newborn genomic sequencing are mixed

BabySeq
While a previous study indicated parents were very interested in newborn sequencing, just 7 percent of those approached have enrolled in BabySeq so far.

It seems like a great idea. We all have our genomes sequenced at birth, and any findings that suggest a future medical problem are addressed with early interventions, optimizing our health and extending our lives. But are parents of newborns ready to embrace the vision? Yes and no, according to interim results of a first-of-its-kind randomized trial of newborn sequencing. Findings from what’s known as the BabySeq Project were presented last week at the American Society of Human Genetics (ASHG) 2016 Annual Meeting.

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DNA sequencing in newborns: Where do we go from here?

sequencing in newbornsCan sequencing of newborns’ genomes provide useful medical information beyond what current newborn screening already provides? What results are appropriate to report back to parents? What are the potential risks and harms? How should DNA sequencing information be integrated into patient care?

Four teams from across the country will converge this week (April 8–10) in Kansas City, Mo., to address these questions and share learnings from NIH-funded pilot projects. The four teams, comprising the NIH’s Newborn Sequencing In Genomic medicine and public HealTh (NSIGHT) project, will give updates on their work at the 6th Annual Pediatric Genomics Conference, hosted by Children’s Mercy Kansas City.

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Better diagnostic testing for newborns with galactosemia

Babies with galactosemia cannot properly break down the sugar galactose.

For babies born with galactosemia, the simple act of feeding can be deadly. In this rare inherited disease, infants are deficient in an enzyme known as GALT, leaving them unable to metabolize galactose, a sugary byproduct of lactose found in milk and other dairy foods. Instead, galactose builds up and wreaks havoc. If the condition isn’t caught at birth and treated with a lactose-free diet, infants can develop cataracts, brain swelling and organ failure and die within the first few weeks of life.

However, some babies do have enough enzyme to keep the levels of this sugar down, and have a much milder ”variant” form of the disease. The trouble is, the existing newborn screening test cannot always distinguish these children from those with the more severe form of the disease. 

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