Hyderabad: Identifying inborn metabolic abnormality is important for detection of brain disorders and body functions. Research has shown that, the accumulation of proteins, carbohydrates and fats attack the body from inside, causing disabilities.
Every year 30,000 children are hit with metabolic disorders, but not before the damage is done. Experts say this is the tip of the iceberg, and the number of persons with disorders is much higher as many of them never make it to health centres.
Dr Anuja Agarwala, a senior dietician at the All India Institute of Medical Sciences says, “In-born errors of metabolism (IEM) are genetic disorders where the body just cannot metabolise one or more nutrients. The biochemical chain is not complete in such genetic defects, which can lead to neurological problems in children if they are not treated in time. IEM is more severe in cases of metabolic disorders related to protein. If not treated, toxic materials start to accumulate in the body, affecting both physical and mental functioning.”
These errors, if identified in time, can be corrected with diet. Experts say that earlier there was no treatment available for such disorders, but recent research has shown that supervised nutritional intervention in terms of special foods and diet can help overcome the problem. The problem starts when the body metabolism can’t utilise nutrients such as protein, carbohydrate and fats, which lead to an abnormal accumulation in the blood and urine. This proves to be toxic.
Dr K. R. Shivraj, senior paediatrician says, “These disorders result in body development delays, mental retardation, physical handicaps and also death. For this reason, stress is being laid on screening newborns in the first 72 hours of life.”
The focus is not on medicines say doctors, but in preventing accumulation of harmful substances so that toxicity can be kept in control. Treatment includes restricted or modified diet so that the nutrient which can’t be metabolised is taken in required quantity....