The best understood simile is to compare the metabolism with a road network. Whilst there is no fault, the cars drive (an amino acid becomes another substance without problems.) But if a vehicle is stopped, because the road is closed (does not work), then everyone else is piling up, a jam occurs, which affects not only the main road but also secondary roads (main road and secondary roads in metabolism),
Impact of inherited metabolic diseases
All are inherited metabolic diseases of genetic origin and are characterized by an alteration of DNA. The impact of inherited metabolic diseases is still poorly understood and, as an expert opinion, there should be a record of cases to obtain an actual photograph of their presence in the population click to boost it now
Even so, it is estimated that one in 1,500 people are born with some of these inherited metabolic diseases.
To date, we have identified more than 700, but continuously identify new subtypes and those already discovered. That has been for nine diseases that have been released in the first World Congress of Inborn Errors of Metabolism;
Disease symptoms varied
These metabolic diseases give varied symptoms, which can create difficulty recognizing and should make an effort to sospecharlas. So many victims made a real pilgrimage until you find the correct diagnosis.
This is because the symptoms can occur in children but also in adults and often are nonspecific and common to other diseases, such as drowsiness, hypotonic or vomiting. Also, patients can have from a generalized disease of the whole organism, to an alteration in specific organs (heart, liver, kidney or brain), mental retardation and, sometimes, minimal signs click to boost it now
The quality of life of the patients depends thus suffering from the ailment, the degree of damage and having the therapeutic possibilities.