There are some diseases of metabolic character that are strange and that are sometimes difficult to detect while not starting their activity, but thanks to the development of a new method capable of detect some of these rare metabolic diseases, treatments may be applied before the disease begins its activity causing damage to the baby or at least ensure that the risks are minimized.
Some of these diseases such as Tay-Sachs, Fabry and Gaucher syndromes remain inactive for a few months after the baby is born, but when they develop, the effects can be dramatic in some cases, since they can cause mental retardation, blindness or even death.
This method has been developed by researchers from the University of Washington (USA) and is an analysis system that allows the detection of defective enzymes that act in this type of diseases. Basically it consists in the extraction of some blood from the baby's heel that is subsequently dehydrated and rehydrated to study the enzymes and thus obtain a spectrometry measuring the levels of the enzyme in terms of quality and constitution. In a couple of days you have the results and it will be known if there is presence or absence of metabolic pathologies.
In principle, the analysis can detect up to 15 types of defective enzymes of the corresponding rare metabolic diseases, thus achieving a very effective prevention system.
