A new test to discover or rule within 48 hours over a hundred rare diseases related to metabolism from a simple urine sample, thus facilitating early diagnosis of some disorders, detected later, can be irreversible. It can become to any physician a simple, fast and affordable tool for early diagnosis of these disorders.
There are over a thousand different rare metabolic diseases or very rare diseases, occurring in one in 10,000 children, or even, in one in 100,000, but so many together, which is not so rare to find children with severe metabolic diseases.
The first signs are “subtle” as a rejection of food in the baby, problems of growth, altered level of consciousness, movement disorders, sensory disturbances or problems with vision and hearing.
And if not identified early, they can lead to various complications from cerebral palsy to changes in the organs, blindness, hearing problems, or even death. The importance of detecting them early is great.
Usually, the diagnosis depends on very complex metabolic studies available only to some centers with highly skilled professionals. With this new test, the response can be obtained in 48 hours from a urine sample collected in a paper filter without a “super expert”.
The test is based on the technology used and a group that works in India and Germany, but applied to the analysis of samples from healthy babies could cause false positive. So, scientists proposed to improve the system, designing algorithms that involve alterations in metabolites detected in the urine sample with different symptoms.
Doctors began has already used this technology with critical patients last fall and diagnosed three patients. The challenge now is to make this system come to any doctor in the world.
Besides the speed of results is the “competitive” price test (300 euros at the moment, although it aspires to further reduce the price), cheaper than most of the evidence seeking in these cases pediatricians.
If you also get doctors to suspect soon after symptoms of a child may be a metabolic disorder, you can diagnose your ailment seven, ten, fifteen, twenty, or one month before what is being detected now, which is to detect the disease at a very early stage and have treatment and prognosis radically different.