Get to know Inherited Metabolic Diseases

Inherited metabolic disorders (IMDs) is a large group of hereditary diseases which are due, for the most part, in the absence or dysfunction of enzymes involved in metavolismo.'Echoun recognized over 1000 different inherited metabolic disorders and this number is constantly growing. Although the frequency of each individual is low, however, as a group, because of their large number, it is quite common and is estimated to affect 1 in 500-1000 newborns, representing around 20% of all genetic diseases. Clinical symptoms vary from mild to very severe and include developmental or neurological effects, mental retardation, epilepsy, liver problems, kidney, heart, etc. Some diseases can be adequately met by a special diet or medication, provided that they are diagnosed early. Patients with RMN need constant medical supervision as risk of metabolic deregulation and deterioration which may result in death. Diagnosis and treatment of children and adults suffering from hereditary metabolic disease is, in most developed countries, multidisciplinary team composed of specialized physicians, geneticists, laboratory scientists, nutritionists and psychologists. Recently the medical metabolic (metabolic medicine) has been recognized as a sub-specialty of medicine. The Hereditary Metabolic Diseases inherited from parents to children. In every man there are two copies of each gene, one from each parent. 'Person who has an abnormal gene usually the person is considered a carrier and does not suffer from the disease. If someone inherit two abnormal genes are then passions. The probability of this happening is 25% for each pregnancy. In little Hereditary Metabolic Diseases only one abnormal gene to manifest the disease.

Inherited Metabolic Diseases in Cyprus

In Cyprus dozens of children have been diagnosed with hereditary metabolic disease, in the last twenty years, from pediatricians, mostly from the Makarios Hospital, in collaboration with the Biochemical Genetics Department of the Institute of Neurology & Genetics which is the reference center in Cyprus for laboratory investigation of inherited metabolic diseases. A significant number of children had to go abroad. In Cyprus, the level of organization for the diagnosis and treatment of inherited metabolic diseases is low compared to the US level and other European countries. In Cyprus there are a small number of scientists involved in the diagnosis and treatment of RMN. There is no physician specializing in RMN having the skills and the knowledge necessary to monitor these diseases. These diseases are diseases scientists group dealing specifically with RMN and in many cases the treatment must be immediate, since it is urgent, that directly endangered the patient's life. The expert group should be composed of junior scientists in the RMN as clinical, laboratory, geneticists, nutritionists and psychologists because the diagnosis of the disease is only the beginning. Only the diagnosis is not sufficient, very important and long-term monitoring of the patient by qualified health professionals. Also the newborn checklist in Cyprus is very limited compared with the US and other European countries.