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 Second cause of hidden hearing loss identified
20.02.2017 | Michigan Medicine - University of Michigan

nachricht Prospect for more effective treatment of nerve pain
20.02.2017 | Universität Zürich

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: Breakthrough with a chain of gold atoms

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

In the field of nanoscience, an international team of physicists with participants from Konstanz has achieved a breakthrough in understanding heat transport

Im Focus: DNA repair: a new letter in the cell alphabet

Results reveal how discoveries may be hidden in scientific “blind spots”

Cells need to repair damaged DNA in our genes to prevent the development of cancer and other diseases. Our cells therefore activate and send “repair-proteins”...

Im Focus: Dresdner scientists print tomorrow’s world

The Fraunhofer IWS Dresden and Technische Universität Dresden inaugurated their jointly operated Center for Additive Manufacturing Dresden (AMCD) with a festive ceremony on February 7, 2017. Scientists from various disciplines perform research on materials, additive manufacturing processes and innovative technologies, which build up components in a layer by layer process. This technology opens up new horizons for component design and combinations of functions. For example during fabrication, electrical conductors and sensors are already able to be additively manufactured into components. They provide information about stress conditions of a product during operation.

The 3D-printing technology, or additive manufacturing as it is often called, has long made the step out of scientific research laboratories into industrial...

Im Focus: Mimicking nature's cellular architectures via 3-D printing

Research offers new level of control over the structure of 3-D printed materials

Nature does amazing things with limited design materials. Grass, for example, can support its own weight, resist strong wind loads, and recover after being...

Im Focus: Three Magnetic States for Each Hole

Nanometer-scale magnetic perforated grids could create new possibilities for computing. Together with international colleagues, scientists from the Helmholtz Zentrum Dresden-Rossendorf (HZDR) have shown how a cobalt grid can be reliably programmed at room temperature. In addition they discovered that for every hole ("antidot") three magnetic states can be configured. The results have been published in the journal "Scientific Reports".

Physicist Dr. Rantej Bali from the HZDR, together with scientists from Singapore and Australia, designed a special grid structure in a thin layer of cobalt in...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Booth and panel discussion – The Lindau Nobel Laureate Meetings at the AAAS 2017 Annual Meeting

13.02.2017 | Event News

Complex Loading versus Hidden Reserves

10.02.2017 | Event News

International Conference on Crystal Growth in Freiburg

09.02.2017 | Event News

 
Latest News

Impacts of mass coral die-off on Indian Ocean reefs revealed

21.02.2017 | Earth Sciences

Novel breast tomosynthesis technique reduces screening recall rate

21.02.2017 | Medical Engineering

Use your Voice – and Smart Homes will “LISTEN”

21.02.2017 | Trade Fair News

VideoLinks
B2B-VideoLinks
More VideoLinks >>>