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.

Patients with Phenylketonuria face increased risk of developing severe neurological complications

Genetic researchers at Children's Memorial Hospital, Chicago, are aggressively identifying adult patients who suffer from the genetic disorder, Phenylketonuria (PKU), and are presenting those findings at the 11th International Congress of Inborn Errors of Metabolism in San Diego, August 29 through September 2.

26 Aug 2009

Research reveals new options for people with phenylketonuria

For people with the genetic condition known as phenylketonuria (PKU), diet is a constant struggle.

30 Mar 2009

BioMarin receives notice of allowance for Kuvan patent

BioMarin Pharmaceutical Inc. has announced that it has received a notice from the United States Patent Office reporting allowance of claims covering once daily dosing methods for Kuvan (sapropterin dihydrochloride) in the treatment of phenylketonuria (PKU).

30 Mar 2009

New drug shows promise for phenylketonuria

PKU is described by scientists as an autosomal recessive genetic disease that is characterized by a deficiency in an enzyme called phenylalanine hydroxylase (PAH).

15 Jan 2009

Smoking during the first trimester of pregnancy linked to oral clefts

Smoking during the first trimester of pregnancy is clearly linked with an increased risk of cleft lip in newborns.

18 Dec 2008

Merck Serono's Kuvan receives European marketing authorization

Merck Serono, a division of Merck KGaA, Darmstadt, Germany, today announced that the European Commission has granted marketing authorization for Kuvan(R) for the treatment of hyperphenylalaninemia (HPA) in phenylketonuria (PKU) or BH4 deficient patients.

10 Dec 2008

Drug therapy for phenylketonuria reverses heart damage

A pricy drug used to treat a rare but well-known genetic disorder may hold wider promise as a treatment for millions of Americans with potentially lethal enlarged hearts, due mainly to high blood pressure, a study from Johns Hopkins shows.

13 May 2008

Demand for alternative sweeteners are increasing by 8% a year

The demand for alternative sweeteners to sugar is increasing at a rate of 8% per year. The market is showing more and more interest in natural sweeteners compared to synthetic ones. This has been reflected in a study carried out by researchers at the Universidad Miguel Hernández (UMH) in Elche, Alicante.

12 May 2008

Novel newborn screening kits developed by NovaUCD-based Enzolve Technologies

Enzolve Technologies, a UCD spin-out company based at NovaUCD the Innovation and Technology Transfer Centre at University College Dublin, has received substantial investment from Enterprise Ireland under the National Development Plan (2007-2013) and private investors.

29 Apr 2008

New phenylketonuria (PKU) treatment offered at Hayward Genetics Center

No pizza. No ice cream. No hotdogs and definitely no hamburgers. What sounds like a list of banned food for someone trying to lose weight is actually a way of life for children with a rare metabolic disorder, phenylketonuria (PKU), which prevents digestion of an essential amino acid found in most meats, eggs, dairy products, nuts and breads.

10 Jan 2008

Comprehensive gene atlas underlying drug addiction

Using an integrative meta-analysis approach, researchers from the Center for Bioinformatics at Peking University in Beijing have assembled the most comprehensive gene atlas underlying drug addiction and identified five molecular pathways common to four different addictive drugs.

7 Jan 2008

BioMarin Pharmaceutical announces FDA approval for Kuvan

BioMarin Pharmaceutical Inc. has announced that the U.S. Food and Drug Administration (FDA) has granted marketing approval for Kuvan(TM) (sapropterin dihydrochloride) Tablets, the first specific drug therapy approved for the treatment of phenylketonuria (PKU).

14 Dec 2007

BioMarin files investigational NDA for PEG-PAL for the treatment of phenylketonuria

BioMarin Pharmaceutical Inc. has announced that it has filed an investigational new drug application (IND) with the U.S. Food and Drug Administration (FDA) for PEG-PAL (Poly Ethylene Glycol-Phenylalanine Ammonia Lyase), formerly known as Phenylase, for the treatment of phenylketonuria (PKU).

27 Nov 2007

Simple blood test for newborns would save lives

The president of the March of Dimes Dr. Jennifer Howse says a simple blood test could save many newborns from premature death or mental retardation.

12 Jul 2007

40 percent of parents willing to have their child's DNA stored in a government biobank

Genetic testing holds great promise for the future. Information generated by genetic testing may provide information that leads to new treatments for common diseases such as heart disease and diabetes.

23 Jun 2007

BioMarin starts phase 2a study of 6R-BH4 in sickle cell disease

BioMarin Pharmaceutical has announced that the first patient has initiated treatment in the Phase 2a clinical study of 6R-BH4 (sapropterin dihydrochloride) for the treatment of sickle cell disease (SCD).

4 May 2007

Mapping rhesus macaque genome helps illuminate what makes us human

Researchers have sequenced the genome of the relatively ancient rhesus macaque ( Macaca mulatta ), providing perspective into how humans are genetically different from our primate relatives.

15 Apr 2007

Link between morbid obesity in toddlers and lower IQ scores

University of Florida researchers have discovered a link between morbid obesity in toddlers and lower IQ scores, cognitive delays and brain lesions similar to those seen in Alzheimer's disease patients, a new study shows.

4 Sep 2006

Researchers recommend national uniform newborn screening tests

In a new study, conducted for the federal government and published in a supplement to the May issue of the journal Pediatrics, Stephen M. Downs, M.D. and Aaron E. Carroll, M.D., of the Indiana University School of Medicine, recommend a national uniform panel of newborn screening tests which they found to be cost saving as well as life saving.

3 May 2006

Technique for inserting genes into specific sites on the genome in liver cells

The genes are inserted into non-coding regions of the genome so there is no danger of interfering with the functioning of other genes. Once inserted, the gene remains a permanent part of the cell's genome.

10 Oct 2005