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.

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

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

New application translates foreign-language food menus for English speakers

Researchers have created an application that enables cell phones and other portable devices to translate foreign-language food menus for English speakers and could be used for people who must follow restricted diets for medical reasons.

9 Sep 2011

BioMarin to acquire Pfizer's Ireland manufacturing plant

BioMarin Pharmaceutical Inc. announced today that it has entered into a definitive agreement to acquire a bulk biologics manufacturing plant from Pfizer, located in Shanbally, Cork, Ireland.

24 Jun 2011

Scientists develop new method for enzyme immobilization

Virtually all processes in the human body rely on a unique class of proteins known as enzymes. To study them, scientists want to attach these molecules to surfaces and hold them fast, but this can often be a tricky undertaking.

12 Apr 2011

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

BioMarin announces preliminary results from ADAPT in patients suffering from PKU

BioMarin Pharmaceutical Inc. announced today preliminary results from ADAPT (A Diversified Approach for PKU Treatment) in an abstract (Abstract #91, Mental Health Screening in Phenylketoniuria Clinic) presented by Barbara Burton, MD at the 2011 annual American College of Medical Genetics conference in Vancouver, Canada.

19 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

Dedicated web site for PKU medical education to be launched at 2010 SSIEM Annual Symposium

PKU specialists around the world can now count on a brand-new, authoritative website entirely dedicated to this rare genetic disorder, which affects one out of every 10,000 to 20,000 live births worldwide.

31 Aug 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 reports $0.5 million GAAP net loss for second-quarter 2010

BioMarin Pharmaceutical Inc. today announced financial results for the second quarter of 2010. GAAP net loss was $0.5 million ($0.01 per diluted share) for the second quarter of 2010, compared to GAAP net income of $1.3 million ($0.01 per diluted share) for the second quarter of 2009. Non-GAAP net income was $8.6 million ($0.08 per diluted share) for the second quarter of 2010, compared to non-GAAP net income of $9.0 million ($0.09 per diluted share) for the second quarter of 2009.

3 Aug 2010

Genetic Disorder Tracker introduced by Guidepoint Global

Guidepoint Global, LLC, a leading primary research firm, today announced the launch of their Genetic Disorder Tracker, a monthly longitudinal data release that captures commercial trends, on a worldwide basis, associated with the treatment of eight rare genetic disorders: Gaucher's disease, Fabry's disease, PKU, MPS I (Hurler Syndrome), MPS II (Hunter Syndrome), MPS VI (Maroteaux-Lamy Syndrome), Niemann-Pick disease and Pompe disease.

25 Feb 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