11:29am Wednesday 20 September 2017

MedUni Vienna: New method allows early detection of a special group of metabolic diseases in newborn babies

The results of a study, which has been carried out worldwide for the first time, show that every 1 in 2,300 babies is affected by these conditions. In Austria, this would equate to around 30 children a year.

 Lysosomes are important elements of body cells. Substances that are known to the body and alien to the body are absorbed in the cells by the lysosomes and digested with the aid of enzymes. If this function fails, the breakdown process is impaired. Cell-damaging macro-molecules begin to build up. Berthold Streubel from the University Department of Gynaecology at the MedUni Vienna says: “The symptoms that this causes range from severe illness in neonates to later manifestations with renal or cardiac failure or circulatory disorders in the brain.”

World’s first population-wide prospective study
As part of the newborn screening programme carried out at the MedUni Vienna for the whole of Austria, blood was taken prospectively from newborn babies and tested anonymously for four lysosomal metabolic diseases (Fabry’s, Gaucher, Pompe and Niemann-Pick A/B disease). A new biochemical test, which has been developed by the working group led by David Kasper, revealed an unexpectedly high prevalence of 1:2,315. The team established an innovative mass spectrometry method and simultaneously tested for lysosomal metabolic diseases.

The study, sponsored by the German Ministry of Health, has now been published in the highly-respected journal “The Lancet”. “Since lysosomal storage disorders are hereditary, there is a possibility that the condition will be passed on to the next generation,” says study author Streubel. “We are able to predictively recognise the genetic defect, however we are unable to know when and to what extent it will be expressed. For a few lysosomal metabolic diseases there are already treatment options such as enzyme substitution therapy or stem cell transplantation; others are in development or already in the clinical trials phase.”

Tremendous success for young group of researchers
The team led by Arnold Pollak, Head of the University Department of Paediatrics and Adolescent Medicine, and Berthold Streubel, as well as the initial authors Thomas Mechtler and Susanne Stary, carried out the study in cooperation with the American Center of Disease Control and Prevention. A further development of this new method was recently also published in the highly respected journal “Clinical Chemistry” by the same research group.

“This project is a tremendous success. With the developments of the method that now allow the simultaneous detection of six lysosomal storage diseases from a single drop of blood, we are at the forefront of our field worldwide. We have shown what opportunities arise from the use of new technologies in the field of preventative medicine, and how important it is for these to be used judiciously,” says David Kasper from the University Department of Paediatrics and Adolescent Medicine, who is also project and programme manager for the Austrian newborn screening programme.

For more than 45 years, the University Department of Paediatrics and Adolescent Medicine at the MedUni Vienna has been carrying out one of the most extensive newborn screening programmes in Europe on behalf of the Ministry of Health. Samples are taken from 78,000 newborn babies every year in Vienna and tested using the latest methods to screen for more than 30 conditions.

Service: The Lancet
“Nationwide Newborn Screening Reveals High Incidence of Lysosomal Storage Disorders.” Thomas P. Mechtler, Susanne Stary, Thomas F. Metz, Víctor R. De Jesús, Susanne Greber-Platzer, Arnold Pollak, Kurt R. Herkner, Berthold Streubel, David C. Kasper.


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