Phenylketonuria (PKU) News and Research

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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

Pediatric research project to expand data collection linked to newborn screening results

Within the first days of life, screening tests are performed on all newborns born in the U.S. to identify rare and often life-threatening medical conditions that are not apparent at birth. These newborn screening programs have been operating for decades, permitting doctors to intervene early and improve outcomes in potentially devastating conditions.

18 Jan 2012

State laws regarding baby blood samples analyzed

State laws and policies governing the storage and use of surplus blood samples taken from newborns as part of the routine health screening process range from explicit to non-existent, leaving many parents ill-informed about how their babies' left over blood might be used, according to a team led by a member of the Johns Hopkins Berman Institute of Bioethics, in collaboration with researchers from the University of Utah. A report on their analysis of the subject is published March 28 in the journal Pediatrics.

28 Mar 2011

Expansion of newborn screening throws some families on a journey of great uncertainty

Mandatory genetic screening of newborns for rare diseases is creating unexpected upheaval for families whose infants test positive for risk factors but show no immediate signs of the diseases, a new UCLA study warns.

7 Dec 2010

BioMarin commences Phase 3b study of Kuvan's neuropsychiatric effects in phenylketonuria patients

BioMarin Pharmaceutical Inc. announced today that the first subject has initiated treatment in a Phase 3b study (PKU-016) to evaluate the effects of Kuvan (sapropterin dihydrochloride) on neuropsychiatric symptoms in subjects with phenylketonuria (PKU). BioMarin expects to report results in the first half of 2012.

18 Aug 2010

BioMarin provides update on PEG-PAL Phase 2 clinical study for phenylketonuria

BioMarin Pharmaceutical Inc. announced today an update in the Phase 2 clinical study of PEG-PAL (PEGylated recombinant phenylalanine ammonia lyase) for the treatment of phenylketonuria (PKU). Data reported in this announcement reflect preliminary results as of July 23, 2010. Complete top-line results are expected in the fourth quarter of 2010.

3 Aug 2010

BioMarin Pharmaceutical reports GAAP net income of $4.7M for fourth-quarter 2009

BioMarin Pharmaceutical Inc. today announced financial results for the fourth quarter and year ended December 31, 2009. GAAP net income was $4.7 million ($0.05 per diluted share) for the fourth quarter of 2009, compared to GAAP net income of $24.5 million ($0.21 per diluted share) for the fourth quarter of 2008, which included a $30.0 million payment from Merck Serono related to the approval of Kuvan in the EU.

24 Feb 2010

Call for every health insurance plan to cover Phenylketonuria

Credit Senators John Kerry (D-MA) and Robert Casey (D-PA) with a significant contribution to the health care debate: a bill ends a glaring disparity in the way Americans living with Phenylketonuria (PKU) control their potentially devastating disease, and the way others living with serious chronic conditions are treated. "The Medical Foods Equity Act of 2009" aims to save affected families thousands of dollars in out-of-pocket costs, cut long-term costs for the entire system, and offer 20,000 Americans a better shot at healthy, happy, and productive lives.

5 Dec 2009

Patent covering the approved administration of Kuvan with food issued

BioMarin Pharmaceutical Inc. announced today that the United States Patent and Trademark Office has issued a patent covering the approved administration of Kuvan® (sapropterin dihydrochloride) with food for the treatment of phenylketonuria (PKU). The patent expires in 2024.

6 Nov 2009

BioMarin commences PEG-PAL Phase 2 clinical trial for phenylketonuria

BioMarin Pharmaceutical Inc. (Nasdaq: BMRN) announced today that the first patient has initiated treatment in the Phase 2 clinical study of PEG-PAL (PEGylated recombinant phenylalanine ammonia lyase) for the treatment of phenylketonuria (PKU). Initial top-line results are expected in mid-2010.

23 Sep 2009