Metabolic Screen 119 Disease Urine Test Cost & Procedure

To examine inborn errors of metabolism.

Also called the IEM screen, or inborn errors screen. These are disorders that prevent the baby from “processing” food properly, leading to an accumulation of toxic chemicals in the blood that is harmful to the baby’s normal development.

If these remain undetected and untreated at birth, the results could be devastating, leading to mental retardation or even death depending on the disorder.

Treatment in most cases results in a normal healthy individual. However, once symptoms appear in the baby, the damage has already been done and it may be too late for treatment to have a good outcome. Thus, it is vital to screen ALL babies at birth for these disorders. In most cases when a disorder is detected, the treatment involves a dietary change or addition of vitamins for normal development. In India, due to a lack of awareness of the benefits and high costs, only a few babies from families with a history of metabolic disorders are screened. This is woefully inadequate because most often these disorders appear in babies with no family history of the disorder.

How is newborn screening done?

• The paper is submitted to the lab where the tests are run after being given time to dry.
• Children with these diseases can nonetheless be born to parents who have healthy children and no history of health issues.
• The majority of kids with these diseases come from households where there has never been a case of the disorder before.

What does a favourable outcome mean?

Parents should not be alarmed by the positive results as the screening gives preliminary information, albeit with a high degree of accuracy. It should be followed by a precise confirmatory test.

What exactly are Inborn Errors of Metabolism (also called Metabolic Disorders)?

These are disorders caused by the accumulation of chemicals produced naturally in the body to abnormal levels. The symptoms manifest themselves in a variety of ways:

• impaired physical development or mental retardation.
• Unfortunately, infants with these disorders show no early signs of these disorders and by the time symptoms appear it is too late for treatment.
• Metabolic disorders (Basic) Phenylketonuria is also called PKU and results when a part of a food protein (phenylalanine) is not broken down by the baby’s body. Hypothyroidism results in the baby’s body not producing enough of a hormone (substance) called thyroxine.

Treatment with thyroxine tablets helps prevent mental and growth retardation. Treatment with hormone medications can prevent low blood sugar, salt loss, poor growth, and abnormal body changes. A diet low in galactose can prevent irreversible brain damage and other complications.