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ANKARA BAHCELIEVLER ROTARY CLUB GLOBAL GRANT PROPOSAL
Project Name: "Laboratory Diagnosis Of Lysosomal Storage Diseases"
PURPOSE AND IMPORTANCE OF THE PROJECT
Lysosomal storage diseases (LSDs) are one of the groups of inborn metabolic diseases. LSDs were first described by Hers H.G. in 1965. Hers first diagnosed Pompe diseases characterized by glycogen accumulation in lysosomes as a result of alpha-glucosidase deficiency. Today, more than 60 LSDs have been identified according to the type of material that accumulates in the cell, its location, and the enzyme that is deficient. Accumulation increases with age. Because LSDs is a multisystemic disease, the diagnosis can take up to 7 years if there is no suspicion. Even if the symptoms are mild, it will extend to 30 years. Most of LSDs are caused by severe clinical conditions affecting infants or children, causing permanent mental retardation, physical developmental delay, and death. Early identification of LSDs is very important in terms of approach to treatment and prevention of permanent sequelae.
The population of Turkey is 80 million and 1.177.000 babies are born every year in Turkey. For example from a European country, the population of Italy is 61 million, and 576.000 babies are born every year in Italy. There are 40 national newborn screening laboratories for inborn metabolic diseases in Italy but we have only 2 laboratories in Turkey. LSDs are being added in many newborn screening programs in the USA and many European countries. However; in our country, measuring specific lysosomal enzyme levels is performed in a few centers. Because of the difficulty of achieving these tests, patients are being diagnosed late. Furthermore, they are not being diagnosed. Therefore, the treatment of these disorders is delayed. Lysosomal diseases can not be screened in our country, thus we aimed to evaluate chitotriosidase activity for early diagnosis of lysosomal diseases. For this purpose, we will evaluate at least 3000 patients who have symptoms and signs of LSDs within 2 years by a chitotriosidase blood test.
Early suspicion and diagnosis in infants and early treatment provide a chance for a healthy life or fewer sequelae. The intervention of neurocognitive functions without deterioration is very important. Healthy babies are important both in terms of the national economy and reducing infant mortality as indicators of the country's developmental level. The ability to see daily needs alone is the most important indicator of the quality of life. Treatment in childhood is directly effective in the health and ability of adulthood. However, some LSDs do not have a good prognosis despite sufficient treatments. Even if the patient dies, it is important that the mother provides a prenatal diagnosis in subsequent pregnancies.
Symptoms and Signs of LSDs:
• Central Nervous System
• Pulmonary problems
• Cardiac problems
• Eye
• Ear
• Bone and Muscle
• Abdomen
• Skin
• Hematological
For this project, we need a microplate reader device for the ANKARA UNIVERSITY, FACULTY OF MEDICINE, DEPARTMENT OF PEDIATRIC METABOLISM Laboratory.
Total Budget: 51.300 USD
Contact:
Gence ERDAGI(2020-2021 President)
genceerdagi@gmail.com
+905337073244
Ertan KARAISMAIL(Committee Chair)
ertan.karaismail@navist.com.tr
+905326160784
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