Hereditary metabolic diseases are included in the group of rare diseases, which alone have a very low prevalence (less than 1 in 100,000), but the total number of these diseases, which is more than 700 types, is not low and according to race and geographical location, from 1 It ranges from 500 to 1 in 1,500 live births. If these diseases are not diagnosed and treated on time, they are associated with high mortality and permanent disabilities. Unfortunately, in most cases, there are no specific symptoms and it is mistaken for many other common diseases. For this reason, the diagnosis of this group of diseases is very difficult and requires special specialized tests.
Screening tests are usually recommended for the timely diagnosis and treatment of metabolic diseases, or in cases where symptoms such as developmental delay, unexplained seizures, frequent vomiting, enlarged liver or spleen, muscle weakness, hypoglycemia, increased acid, or ammonia in the blood There is a recommended metabolic test. Based on this, patients may be referred to a metabolic specialist in two ways:
- Babies who have had a positive screening test
- Children for whom the possibility of metabolic disease has been suggested based on the aforementioned symptoms.
The first step in referring to a metabolic specialist is to confirm or deny the presence of a metabolic disease based on clinical symptoms and laboratory evidence, and in the next step, the metabolic specialist should initiate additional tests to diagnose the type of disease and the possibility of treating the disease. And finally, there is a need to perform a genetic test to confirm the disease and help in prenatal diagnosis for subsequent pregnancies in the family.
Also, depending on the type of metabolic disease, it may be necessary to refer the patient for other specialized consultations such as nutrition, brain and nerves, heart, lungs, digestion, eye examination, rehabilitation services, and other support measures such as psychotherapy, which determines the type of consultation required. It is the responsibility of the metabolic specialist.
It is also necessary for patients to have regular periodic visits (usually every 3-6 months depending on the type of disease) to specialized metabolic clinics or other specialties to evaluate the course of the disease and the rate of response to treatment, in case of a change in the rate of response. by changing the diet or medication dosage, the doctor can intervene in time and prevent irreparable side effects.
In cases of metabolic disease with acute symptoms such as convulsions, decreased level of consciousness, hypoglycemia, increased blood acid or ammonia levels... It should be accompanied by the need for immediate hospitalization of the patient in a hospital equipped with a pediatric intensive care unit (PICU), which is also the responsibility of the metabolic specialist to diagnose emergency cases that require immediate hospitalization.
In general, since metabolic diseases are often associated with the involvement of several body organs, there is a need for joint teamwork of different specialties, and there is a need for periodic examinations and periodic specialized tests to increase the quality of treatment and reduce disability and death. and mortality in these patients.
Considering that there is still no definitive treatment for most of these diseases, the best way is to prevent the occurrence of the disease. For this reason, if there is an infected person in the family, genetic tests should be done to identify the pathogenic mutation in that family, so that the next children can be prevented from getting infected by prenatal tests (amniocentesis).