Iran administers newborn screening for 32 metabolic disorders

August 2, 2018

TEHRAN — Newborn are being screened for 32 metabolic disorders, as diagnosing the diseases at birth will be effective in controlling the side effects, head of the 30th International Congress of Pediatrics (October 18-21) has said.

The screening tests for inherited metabolic disease are being piloted for the time being but will be soon preformed nationwide, IRNA quoted Mohammad Rabbani as saying on Tuesday. 

According to Web MD website inherited metabolic disorders are genetic conditions that cause metabolism problems. Most people with inherited metabolic disorders have a defective gene that results in an enzyme deficiency. There are hundreds of different genetic metabolic disorders, and their symptoms, treatments, and prognoses vary widely.

Metabolism refers to all the chemical reactions taking place in the body to convert or use energy. A few major examples of metabolism include breaking down the carbohydrates, proteins, and fats in food to release energy, transforming excess nitrogen into waste products excreted in urine, and breaking down or converting chemicals into other substances and transporting them inside cells.

In most inherited metabolic disorders, a single enzyme is either not produced by the body at all or is produced in a form that doesn't work. The missing enzyme is like an absentee worker on the assembly line. Depending on that enzyme's job, its absence means toxic chemicals may build up, or an essential product may not be produced.

Newborn screening is important for the early detection of many congenital genetic and metabolic disorders, aimed at the earliest possible recognition and management of affected newborns, to prevent the morbidity, mortality, and disabilities associated with an inherited metabolic disorder, U.S. National Center for Biotechnology Information wrote. 

Newborn screening is a vital process that identifies apparently healthy infants with serious inherited disorders, generally metabolic in origin, that are usually correctable by dietary or drug interventions before they suffer significant morbidity or mortality.

Newborn screening, as a routine part of the care of most newborns, is expanding considerably throughout the world. Many countries screen all newborns for PKU and hypothyroidism, while in some of the more developed countries, the routine screening panels include 20 or more conditions.

MQ/MG

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