Phenylketonuria (PKU) News and Research

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Study offers a unified biological model to explain the causes of autism

A new University of California San Diego School of Medicine study offers a unified biological model to explain how genetic predispositions and environmental exposures converge to cause autism spectrum disorder (ASD).

10 Dec 2025

Is aspartame safe for blood sugar? Study answers the big question

A major systematic review and meta-analysis found that aspartame has little to no effect on blood glucose, insulin, or appetite-regulating hormones in humans. Evidence certainty is very low, with no significant long-term metabolic impact identified.

25 Jun 2025

ACMG sets new lifelong guidelines for managing phenylalanine hydroxylase deficiency

Updated evidence-based clinical guidelines for phenylalanine hydroxylase deficiency diagnosis and management.

4 Dec 2024

Gene editing breakthrough could offer new hope for people with phenylketonuria

Phenylketonuria (PKU) is a rare newborn genetic disease that impacts between 1 in 10,000 to 1 in 20,000 people, depending on the individuals' genetic ancestry. PKU causes an amino acid - called phenylalanine (Phe) - to build up in the bloodstream.

2 Nov 2023

Mozart lullaby may help reduce pain experienced by newborn babies during heel prick blood test

Playing a Mozart lullaby may help reduce the pain experienced by newborn babies undergoing a heel prick blood test, according to a randomized, blinded clinical trial involving 100 infants published in Pediatric Research.

28 Aug 2023

Penn Medicine and CHOP receive $26 million NIH grant to develop treatments for three rare genetic diseases

A Penn Medicine and Children's Hospital of Philadelphia (CHOP) team will seek to develop treatments for three rare, incurable genetic diseases with the help of a $26 million grant from the National Institutes of Health (NIH).

1 Aug 2023

Many genetic disorders respond well to specialized gene therapy

When the normal DNA sequence in an individual changes or mutates it can cause disease. The mutation may involve multiple genes and may be caused by environmental factors, or there may be chromosomal defects that are harmful at birth, in infancy or environment at a later stage.

12 Dec 2022

Research suggests potential new treatment strategy for phenylketonuria

Researchers at The University of Texas MD Anderson Cancer Center have discovered a critical new factor in regulating phenylalanine metabolism and, therefore, in preventing the inherited metabolic disorder phenylketonuria (PKU).

5 Aug 2021

Genomic sequencing falls short as a standalone screening tool for newborns

With the rise of genomic sequencing, health technology companies are promising parents they can detect rare metabolic disorders in newborns who, despite a healthy appearance, may need immediate treatment.

10 Aug 2020

Improving ability to predict autism risk with few drops of blood

Within days of birth, a few drops of blood are collected from every newborn in California--and across the United States -- which are then stored on filter paper and screened for dozens of genetic and congenital disorders, such as phenylketonuria, an inherited metabolic disorder that can result in intellectual disability, seizures, heart and behavioral problems.

13 Feb 2020

Investigators identify group of blood metabolites that could help detect autism

Investigators at the UC Davis MIND Institute and NeuroPointDX, a division of Stemina Biomarker Discovery, have identified a group of blood metabolites that could help detect some children with autism spectrum disorder

6 Sep 2018

Compounds found in green tea and red wine offer hope to treat inborn congenital metabolic diseases

A new Tel Aviv University study suggests there is hope of treating certain inborn congenital metabolic diseases -- a hope found in green tea and in red wine.

2 Jul 2018

FDA approves novel enzyme therapy for adults with rare and serious genetic disease

The U.S. Food and Drug Administration today approved Palynziq (pegvaliase-pqpz) for adults with a rare and serious genetic disease known as phenylketonuria (PKU).

25 May 2018

Pediatric researchers uncover new syndrome that causes intellectual disability

Pediatric researchers, using high-speed DNA sequencing tools, have identified a new syndrome that causes intellectual disability (ID). Drawing on knowledge of the causative gene mutation, the scientists' cell studies suggest that an amino acid supplement may offer a targeted treatment for children with this condition.

5 Apr 2016

MU researchers use MRI to study effects of Phenylketonuria

All children are screened for a host of conditions at birth, such as Phenylketonuria (PKU), a genetic disorder that is passed by mutated genes from both parents to their offspring. PKU is rare, only affecting one in every 10,000 children in the U.S.; therefore, it is seldom studied.

23 Mar 2016

Flagship launches Rubius to develop functionalized red blood cells for treatment of serious diseases

Flagship Ventures, a leading innovation and venture firm focused on healthcare and sustainability, announced it has launched Rubius Therapeutics, to develop functionalized red blood cells for the treatment of autoimmune conditions, metabolic diseases, cancer, and other serious diseases.

9 Dec 2015

Intrexon, Synthetic Biologics form ECC to develop and commercialize novel biotherapeutics for phenylketonuria

Intrexon Corporation, a leader in synthetic biology, and Synthetic Biologics, Inc., a clinical-stage company focused on developing therapeutics to protect the microbiome while targeting pathogen-specific diseases, today announced an Exclusive Channel Collaboration (ECC) to pursue the development and commercialization of novel biotherapeutics for the treatment of patients with phenylketonuria (PKU), a serious and debilitating metabolic disorder.

10 Aug 2015

Newborn screening can prevent lifelong disability

When your baby was born you likely heard a loud cry and examined your baby to make sure he/she had a full set of adorable fingers and toes. But just imagine a few days after you arrive home, your phone rings: your baby has screened positive for a genetic disorder.

24 Sep 2014

Parents must be considered during expansion of genetic screening programs for newborns

Parents must be considered when states decide to expand genetic screening programs for newborns, according to a new study that looked at mandatory testing panels and political pressure by advocacy groups.

22 Jun 2012

AHRQ grants U-M $2.5M to study long-term health outcomes and cost-effectiveness of newborn screening

University of Michigan researchers will use a $2.5 million grant from the Agency for Healthcare Research and Quality to study long-term health outcomes and cost-effectiveness of newborn screening.

2 Mar 2012