Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Metabolic disease too easily missed

15.02.2007
Dutch researcher Terry Derks has demonstrated that the metabolic disease MCAD deficiency can be detected at an early stage. At present the disease is only found in half of the expected number of patients.

With the help of a new screening method, all newborns can now be screened. Young children can develop complications due to MCAD deficiency if this is not diagnosed on time. Where early detection fails, it is too late too intervene in a quarter of cases.

A recently developed screening method makes it possible to screen newborns for several metabolic diseases, such as MCAD deficiency. Over the past three years researchers have tested the screening for MCAD deficiency in the north of the Netherlands by means of the heel prick. In this trial project, MCAD deficiency was found to be twice as prevalent than had been predicted. Moreover it was detected four times as frequently as is the case without screening.

Better detection

How prevalent is the condition? The number of patients can be predicted based on the presence of changes in the DNA, so called gene mutations, which can cause the disease. From this the expected number of patients was 1:12,100. And how often was this disease found? Without the heel prick test 1 in 27,400 newborns in the Netherlands were diagnosed with MCAD deficiency. This happens after the patient shows complaints. Therefore the disease was not discovered in more than half of the patients. With the heel prick screening in the northern part of the country the researchers observed the disorder in 1 in 6600 newborns.

North-south gradient

MCAD deficiency was found to be diagnosed more often in the north than in the south of the Netherlands. Interestingly, a north-south gradient for the prevalent MCAD gene mutation is present throughout Europe.

MCAD deficiency

In patients with MCAD deficiency the MCAD enzyme does not function well enough. This enzyme is needed for the production of extra energy. Extra energy is particularly important under certain conditions, for example, during infections, fasting or major exertion. For young children, in particular, having the MCAD deficiency can be dangerous. Normally, they need more energy than adults, and during fever this demand increases. Young children with MCAD deficiency and fever can develop serious complications, probably due to the shortage of energy. As a result of this a simple infection can even become life threatening. About one-quarter of the clinically ascertained patients with MCAD deficiency who are admitted to hospital die before the diagnosis is known. A significant proportion of the children who survive the complications remain permanently disabled.

Heel prick

After an early diagnosis, a child can be helped with a simple treatment. With the new screening method, MCAD deficiency can be investigated for during the heel prick test neonatally. All newborn babies in the Netherlands receive the heel prick. At the recommendation of a Health Council of the Netherlands committee, the heel prick has been extended since 1 January 2007 to include, for example, screening for MCAD deficiency. The committee based its recommendations on a combination of literature research and scientific opinion. For MCAD deficiency, Derks and colleagues provided the scientific evidence that screening newborns is worthwhile.

Terry Derks research was funded by NWO.

T.G.J. Derks | alfa
Further information:
http://www.bkk.umcg.nl
http://www.nwo.nl/nwohome.nsf/pages/NWOA_6XWFYH_Eng

More articles from Health and Medicine:

nachricht Millions through license revenues
27.04.2017 | Rheinische Friedrich-Wilhelms-Universität Bonn

nachricht New High-Performance Center Translational Medical Engineering
26.04.2017 | Fraunhofer ITEM

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Making lightweight construction suitable for series production

More and more automobile companies are focusing on body parts made of carbon fiber reinforced plastics (CFRP). However, manufacturing and repair costs must be further reduced in order to make CFRP more economical in use. Together with the Volkswagen AG and five other partners in the project HolQueSt 3D, the Laser Zentrum Hannover e.V. (LZH) has developed laser processes for the automatic trimming, drilling and repair of three-dimensional components.

Automated manufacturing processes are the basis for ultimately establishing the series production of CFRP components. In the project HolQueSt 3D, the LZH has...

Im Focus: Wonder material? Novel nanotube structure strengthens thin films for flexible electronics

Reflecting the structure of composites found in nature and the ancient world, researchers at the University of Illinois at Urbana-Champaign have synthesized thin carbon nanotube (CNT) textiles that exhibit both high electrical conductivity and a level of toughness that is about fifty times higher than copper films, currently used in electronics.

"The structural robustness of thin metal films has significant importance for the reliable operation of smart skin and flexible electronics including...

Im Focus: Deep inside Galaxy M87

The nearby, giant radio galaxy M87 hosts a supermassive black hole (BH) and is well-known for its bright jet dominating the spectrum over ten orders of magnitude in frequency. Due to its proximity, jet prominence, and the large black hole mass, M87 is the best laboratory for investigating the formation, acceleration, and collimation of relativistic jets. A research team led by Silke Britzen from the Max Planck Institute for Radio Astronomy in Bonn, Germany, has found strong indication for turbulent processes connecting the accretion disk and the jet of that galaxy providing insights into the longstanding problem of the origin of astrophysical jets.

Supermassive black holes form some of the most enigmatic phenomena in astrophysics. Their enormous energy output is supposed to be generated by the...

Im Focus: A Quantum Low Pass for Photons

Physicists in Garching observe novel quantum effect that limits the number of emitted photons.

The probability to find a certain number of photons inside a laser pulse usually corresponds to a classical distribution of independent events, the so-called...

Im Focus: Microprocessors based on a layer of just three atoms

Microprocessors based on atomically thin materials hold the promise of the evolution of traditional processors as well as new applications in the field of flexible electronics. Now, a TU Wien research team led by Thomas Müller has made a breakthrough in this field as part of an ongoing research project.

Two-dimensional materials, or 2D materials for short, are extremely versatile, although – or often more precisely because – they are made up of just one or a...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Fighting drug resistant tuberculosis – InfectoGnostics meets MYCO-NET² partners in Peru

28.04.2017 | Event News

Expert meeting “Health Business Connect” will connect international medical technology companies

20.04.2017 | Event News

Wenn der Computer das Gehirn austrickst

18.04.2017 | Event News

 
Latest News

Wireless power can drive tiny electronic devices in the GI tract

28.04.2017 | Medical Engineering

Ice cave in Transylvania yields window into region's past

28.04.2017 | Earth Sciences

Nose2Brain – Better Therapy for Multiple Sclerosis

28.04.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>