Get to know Inherited Metabolic Diseases

Inherited metabolic disorders (IMDs) is a large group of inherited diseases which are due, for the most part, in the absence or dysfunction of enzymes involved in metabolism.  Over a thousant of different inherited metabolic disorders were identified 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 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 IMD 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 and dietitians in inherited metabolic diseases, geneticists, laboratory scientists, nutritionists and psychologists. Recently the medical metabolic (metabolic medicine) has been recognized as a sub-specialty of medicine. IMDs are inherited from parents to children. In every human organsism there are two copies of each gene, one from each parent. ' A person who has an abnormal gene usually the person is considered a carrier and does not suffer from the disease. If someone inherits two abnormal genes is considered as patient who has the disease; the probability of this to happen is 25% in each pregnancy. There are few Inherited Metabolic Diseases which require only one abnormal gene to manifest the disease.

Inherited Metabolic Diseases in Cyprus

In Cyprus dozens of children have been diagnosed with inherited metabolic diseases, in the last twenty years, from pediatricians, mostly from the Arhiepiscop Makarios III 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 have to go abroad for treatment and monitoring. 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 IMDs. There is no physician specializing in IMDs having the skills and the knowledge necessary to monitor these diseases. These diseases are diseases scientists group dealing specifically with IMDs 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 IMDs 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 screening program in Cyprus is very limited compared with the US and other European countries.

 

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