Navigation Links
New drug holds out promise of normal diet for sufferers of devastating PKU genetic disease
Date:1/14/2009

Imagine being forced to say no to a child crying for more food at supper. Sadly, Margie Fischer doesn't have to imagine it; that was normal life at her family's dinner table for years. Her daughter Maggie, now 20, suffers from phenylketonuria (PKU), a genetic disease that means her body can't tolerate anything more than a low-protein diet.

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

Without PAH, the body cannot metabolize the amino acid phenylalanine. It then builds up in the blood, crosses the bloodbrain barrier and causes severe brain damage. Fortunately, PKU can be detected at birth in blood tests, and was one of the first treatable genetic diseases. From infancy, PKU sufferers are restricted to a low-protein diet to avoid the worst complications of the condition. This diet is essential during childhood to prevent damage to the brain while it is still growing; however, it is now also recommended for life to optimize school performance, concentration and the ability to think clearly.

"When Maggie was a little child, we would give her vegetables and we could give her, say, two little sprigs of broccoli," Fischer said. "She would be crying at the dinner table that she wanted more broccoli," Fischer said. "Saying no to a kid who wants more broccoli brought tears to my eyes. It was so sad."

However, help may now be on the way. A new pharmaceutical being developed by researchers at McGill University and the McGill University Health Centre (MUHC) along with colleagues at the Scripps Research Institute and BioMarin Pharmaceutical Inc. is offering PKU sufferers the hope of being able to eat a normal, protein-rich diet. Their preclinical evaluation study was published in December in the Proceedings of the National Academy of Sciences.

"The problem is that the PKU dietary modification is extre
'/>"/>

Contact: Mark Shainblum
mark.shainblum@mcgill.ca
514-398-2189
McGill University
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Chlamy genome holds clues for renewable energy, the environment and human health
2. Stanfords nanowire battery holds 10 times the charge of existing ones
3. Material Technologies Holds First Electrochemical Fatigue Sensor Training for Private Inspection Firms
4. Craniosynostosis minimally invasive surgery holds more promise than old procedure
5. Cow stomach holds key to turning corn into biofuel
6. Death, division or cancer? Newly discovered checkpoint process holds the line in cell division
7. IEEE-USA position encourages energy efficiency to save households money, reduce carbon emissions
8. MSUs discovery of plant protein holds promise for biofuel production
9. Bad sign for global warming: Thawing permafrost holds vast carbon pool
10. New synthetic form of protein holds promise to stop cancer spread
11. Research identifies type of vaccine that holds promise in protecting against TB
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:9/18/2014)... University and the Quebec government have discovered microplastics ... Journal of Fisheries and Aquatic Sciences . , ... or industrial cleansers, to which they are commonly ... and buoyancy, they may readily pass through sewage ... in the world,s oceans, but have only recently ...
(Date:9/18/2014)... millions of Americans to undertake jaunts into the countryside each ... longer within a century, according to new research. , Climate ... the United States as summer temperatures linger later into the ... Ecology and Biogeography . For instance, the paper birch ... New Hampshire could change color one to three weeks ...
(Date:9/18/2014)... the first smartphone app that automatically reveals students, ... other words, your smartphone knows your state of ... how that affects you. , The StudentLife app, ... to their academic performance, also may be used ... monitor mental health, trigger intervention and improve productivity ...
Breaking Biology News(10 mins):Microplastic pollution discovered in St. Lawrence River sediments 2Fall foliage season may be later, but longer on warmer Earth 2Fall foliage season may be later, but longer on warmer Earth 3Fall foliage season may be later, but longer on warmer Earth 4New Dartmouth smartphone app reveals users' mental health, performance, behavior 2New Dartmouth smartphone app reveals users' mental health, performance, behavior 3New Dartmouth smartphone app reveals users' mental health, performance, behavior 4
... of information is a basic property of biological systems. ... impulses. Transmission of signals occurs at an ... signaling molecules, which bear a phosphate or a sulfate ... processes are of supreme importance, they have been extensively ...
... given six scientists more freedom to do especially innovative ... be awarded funding under the DFG,s Reinhart Koselleck Projects ... between 500,000 euros and 1.25 million euros for their ... use flexibly over a five-year period. The ...
... 2008)-Baruch Barry Lieber, Ph.D., professor of biomedical engineering at ... of radiology at the University of Miami Miller School ... Institute of Neurological Disorders and Stroke (NINDS), to support ... brain aneurysms., The $1.9 million grant administered over a ...
Cached Biology News:Sulfurous ping-pong in the urinary tract 2Sulfurous ping-pong in the urinary tract 3More freedom to take risks: DFG funds the first Reinhart Koselleck Projects 2More freedom to take risks: DFG funds the first Reinhart Koselleck Projects 3More freedom to take risks: DFG funds the first Reinhart Koselleck Projects 4University of Miami biomedical engineer 2
(Date:9/18/2014)... Pennsylvanie, 18 septembre 2014 Mapi, ... en 1974, a été depuis 40 ans ... évaluations cliniques traditionnelles par des évaluations recentrées ... sur les impacts économiques des traitements. ... A cours d,une récente conférence ...
(Date:9/18/2014)... expensive. Now a team led by an engineer at ... designs that will let scientists slash the cost of ... , Syringe pumps are used to dispatch precise amounts ... in a reaction. They can also cost hundreds or ... team of Michigan Tech students published the library of ...
(Date:9/18/2014)... Silicon-valley Electronic Data Capture (EDC) provider ... , the latest addition to Clinovo’s CRO Partnership Program. ... (CRO) Program, Clinovo further expands its global reach to ... training, we are now able to build studies on ... can also rely on Clinovo to fully support the ...
(Date:9/17/2014)... 17, 2014 A long-term retrospective study ... irradiation (APBI) via interstitial brachytherapy suggests that women ... nodes could be suitable to receive the treatment. ... place these patients in the "unsuitable" category for ... ASTRO meeting, Beaumont Health System,s Peter Y. ...
Breaking Biology Technology:1974 - 2014 - Mapi fête ses 40 ans 2Doing science just got cheaper -- and faster 2Digitaliza TXT Joins Clinovo’s CRO Partnership Program, Bringing Its Open Source EDC System, ClinCapture to Latin America 2Digitaliza TXT Joins Clinovo’s CRO Partnership Program, Bringing Its Open Source EDC System, ClinCapture to Latin America 3Partial Breast Irradiation With Interstitial Brachytherapy Appears Appropriate For Women Previously Considered Unsuitable 2Partial Breast Irradiation With Interstitial Brachytherapy Appears Appropriate For Women Previously Considered Unsuitable 3Partial Breast Irradiation With Interstitial Brachytherapy Appears Appropriate For Women Previously Considered Unsuitable 4
... have an intriguing ball-shaped structure that suggests several interesting ... that the passage of electrons through a bucky ball ... the ball around its center of mass. Moreover, since ... been thought that they may be useful as lubricants ...
... Oct. 16 NxStage Medical,Inc. (Nasdaq: NXTM ), ... release its financial results for the third,quarter 2007 on ... markets. NxStage will also host a conference call ... discuss its third quarter 2007 financial results. To,listen to ...
... Joins EntreMed,s Senior Management Team, ROCKVILLE, Md., ... a clinical-stage pharmaceutical company developing,therapeutics for the treatment ... W. Bair, Ph.D. has been appointed its Senior ... been elected an,executive officer of EntreMed by the ...
Cached Biology Technology:Bouncing bucky balls 2NxStage(R) Medical to Report Third Quarter 2007 Financial Results on Friday, November 2nd 2EntreMed Appoints Senior Vice President of Research and Development 2EntreMed Appoints Senior Vice President of Research and Development 3EntreMed Appoints Senior Vice President of Research and Development 4