Phenylketonuria News and Research

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There are 20 essential amino acids in the body. Phenylalanine is one of these. These essential amino acids need to be supplied from external sources such as food. They are termed “essential” as they are needed for the body to function properly and grow normally.

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

Study could pave way for new treatment strategies for PKU

Phenylketonuria, also known as PKU, is the most common inherited disease affecting amino acid metabolism. Children are tested for PKU at birth, and babies diagnosed with the disease must adhere to a highly restricted diet to prevent permanent intellectual impairment.

16 Feb 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

GMP protein can improve gastrointestinal health by protecting digestive system from pathogens

The protein glycomacropeptide (GMP) is derived from whey, the liquid by-product of the cheese-making process. GMP contains low amounts of the amino acid phenylalanine. Individuals who suffer from phenylketonuria—a metabolic disorder that causes cognitive impairment when phenylalanine level is too high—can use GMP as an alternative protein source. GMP supplementation has also been observed to improve gastrointestinal health by protecting the digestive system from pathogens and by having an anti-inflammatory effect.

20 Aug 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

Biologists discover vulnerability of brain cancer cells

Biologists at MIT and the Whitehead Institute for Biomedical Research have discovered a vulnerability of brain cancer cells that could be exploited to develop more-effective drugs against brain tumors.

9 Apr 2015

Gene therapy transforms life for men with severe form of hemophilia B

Gene therapy developed at St. Jude Children's Research Hospital, University College London and the Royal Free Hospital has transformed life for men with a severe form of hemophilia B by providing a safe, reliable source of the blood clotting protein Factor IX that has allowed some to adopt a more active lifestyle, researchers reported.

19 Nov 2014

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

Researcher explores public perceptions related to newborn screening programs

While 94 per cent of Canadians surveyed said they would participate in public health programs that screen newborns for a specific number of genetic conditions, only 80 per cent said they would be willing to participate in screening that would sequence their newborns' genomes.

22 Apr 2014

Study shows fat transplantation may treat inherited metabolic diseases

Transplanting fat may treat such inherited metabolic diseases as maple syrup urine disease (MSUD) by helping the body process the essential amino acids that these patients cannot, according to Penn State College of Medicine researchers.

12 Sep 2013

UNC study to explore technology use in screening newborns for genetic conditions

As the clinical use of genomic testing expands, the practical and ethical considerations of using the technology to screen newborns for genetic conditions will be the focus of a new study undertaken at the University of North Carolina.

5 Sep 2013

Argininosuccinic aciduria (ASA) and gene therapy: an interview with Dr Julien Baruteau, UCL Institute for Women's Health, London

This rare genetic condition can theoretically affect patients at any age but symptoms are more often observed in childhood and even uncommonly during the first days of life.

2 Sep 2013

Study examines relationship between medical interventions in childhood, increasing prevalence of later ID

A study by Jeffrey P. Brosco, M.D., Ph.D., of the University of Miami, Florida, and colleagues examines the relationship between medical interventions in early childhood and the increasing prevalence of later intellectual disability.

30 Apr 2013

AAP, ACMG release guidelines on best practices for genetic testing and screening of children

For the first time, the American Academy of Pediatrics (AAP) and the American College of Medical Genetics and Genomics (ACMG) spoke with one voice and released a set of recommendations and guidelines on best practices for genetic testing and screening of children.

5 Mar 2013

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