Many diseases affecting newborns and children are of an ‘ inherited ’ or genetic in nature. Abnormal genes or DNA passed on to the child from one or both parents, or grandparents, or ancestors cause certain permanent physical and developmental changes in the affected child. Most effects are mild to moderate in nature, affecting the child’s functioning, some are more severe. Early diagnosis and couselling along with appropriate supportive care can improve both function of the affected child long term as well as enhance the quality of life.
Another set of disorders are due to ‘ inherited ‘ metabolic defects. All bodily processes occurring at the microscopic level and cellular level occur by a series of precisely programmed complex chemical reactions. These very complex chemical pathways are controlled at various stages by proteins including enzymes. Either a lack of a certain enzyme or a crucial protein in a given chemical pathway leads to an abnormal build up of the preceding chemicals or hormones. This leads to impairment of bodily function such as brain, kidney, heart, muscle, nerve or other organ function. The degree of impairment of function in the affected child is highly variable : from mild to severe. Again, an early proper diagnosis and treatment can be lifesaving in some conditions, and enhanced quality of life in others. For some metabolic disorders, treatment is available in form of an altered diet, special chemicals or drugs for use long term, or actual enzyme replacement in a few. Some of these are expensive treatments and the medicines are sometimes difficult to procure.
We regularly care for a wide variety of genetic and inherited metabolic diseases in newborns and children.
Laboratory and Radiology Diagnostic Services for Genetic and Metabolism Dept :
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