More than 1,600 hereditary metabolic disorders remain undiagnosed or misdiagnosis
More than 1,600 hereditary metabolic disorders remain undiagnosed or wrong diagnosis, so patients are not able to live a normal life and even led to death.
The treatment of these diseases, although that is rare, but many in number, is possible with a special diet, administration of enzyme substitutes or tissue transplantation. However, those in which such diseases are diagnosed, most often unable to cover the cost of their medicines, which can reach and 1,000 euros a month, because these medicines are usually labeled as "supplements" and not covered by pension funds. Even when the drugs covered by the funds, patients have to pay 25% participation, because the hereditary metabolic disorders are classified as chronic.
"The hereditary metabolic disease caused by the deficiency of an enzyme function, which is necessary to make the chemical reactions in body cells, which constitute the metabolism.
Poor functioning of an enzyme leads to accumulation of substances not metabolized and, in most cases, are toxic to the body.
Also, the interruption of the reaction is thus not formed other substances necessary for the organization.
The consequences of this biochemical disorder is metabolic disease, the severity of which depends on the importance of the chemical reaction on the functioning of the organism ", says the ANA-MPA scientific responsible of the Laboratory of Metabolic APanepistimiakis Ippokrateio Pediatric Clinical Hospital of Thessaloniki , Professor Persephone Avgoustidou Savopoulou on the occasion of workshop on "Hereditary Metabolic Diseases for the Pediatrician" to be held on February 27, a central hotel in Thessaloniki.
The likelihood of hereditary metabolic disease is 25% in each pregnancy when both parents have abnormal genes responsible for such condition. In such a case, if the child inherit only one abnormal gene, there is a problem.
But if you inherit two abnormal genes, you will develop the disease. Accurate statistics on each disease are only for the conditions, which are controlled by the mass infancy (eg phenylketonuria, which is one of the most common metabolic disease in Greece-about 1:10,000 births) and know that mothers as it is written in the book of child health. The frequency listed for most diseases and is based on facts or communications studies, is a case in a million. What matters, however, is that all together are many.
Early diagnosis is important for two main reasons: firstly, the possibility of therapy, when given time, protects children from permanent disability (eg mental retardation), and secondly to prevent.
"For many diseases there is treatment, which consists of a modified diet. For example, in hereditary metabolic diseases, the disruption to the metabolism of protein, cut albums and added supplements. Classic example is phenylketonuria, where application of mass neonatal control in developed countries in particular, has saved at least 37,000 children from the conviction in mental retardation, because with early diagnosis applied to an appropriate diet.
Some metabolic diseases are specific drugs with good results. Even if there is no cure, early diagnosis is necessary, in order to know the parents what their child is suffering and to allow prenatal diagnosis in subsequent pregnancies, "explains Mr. Avgoustidou Savopoulou. The main reason the hereditary metabolic disorders are beyond the diagnosis is that most often occur with non-specific symptoms. These diseases are characterized by a wide variety of clinical symptoms. In addition, a hereditary metabolic disease may occur, for the first time when the patient is an adult.
"Certainly, lost adult patients, because most physicians are not aware that the hereditary metabolic disease may occur at any age. That is, inherited metabolic disorders are not only pediatric disease," says Mr Avgoustidou Savopoulou.
A hereditary metabolic disease may occur from birth, refusing food, vomiting, seizures, drowsiness, heart, liver, kidney problems, may also be well-born child and symptoms occur after months or years to unexplained episodes of vomiting, diarrhea, convulsions, drowsiness and even coma, during infection or in response to a change in diet. The incident may be related to an incident (eg fever, infection, surgery) or after certain foods (eg meat, fruits, milk).
The keyword for the clinical suspicion is inexplicable, that symptoms without apparent cause. Also, the patient may be visited for the first time, the doctor, with this body problem (eg cataracts), have a large liver, spleen, kidney stones, arthritis, heart problems, skin rashes, thromboembolic events, etc.
Can the child still while the top seems to grow naturally, begin to lose skills, for example in speaking or walking, and sometimes may change and its characteristics, be rough. These patients have progressive worsening of symptoms.
Some diseases are treated with lifelong change of diet and / or using medication. For a few diseases, there is a substitution of enzyme deficiency in, or transplant tissue (eg bone marrow), or liver, but not without risk or even the administration prepared enzyme.
The proper treatment allows many patients to pursue normal lives and be active members of society.
For many metabolic diseases, there is no specific treatment, so efforts are directed at relieving the symptoms by various means to improve the quality of life of patients, such as physiotherapy, speech therapy, administration of antiepileptic drugs-and the family support which takes care of the child.
© 2010 Reuters - MAKEDONIKO NEWS AGENCY