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Newborn screening for inborn errors of metabolism

Metabolism treatment in Hebbal, Bangalore

Over 50 treatable metabolic disorders can be detected in babies by a new screening test for inborn errors of metabolism (IEM). As a result of these disorders, toxic chemicals accumulate in the bloodstream, hampering the baby's normal development. In most cases, babies with these disorders appear perfectly healthy and act normally. Undiagnosed and untreated at birth could lead to mental retardation and even death if left untreated.

Blood abnormalities can be detected in newborns before symptoms appear. Individuals recover to normal health after metabolism treatment in Hebbal, Bangalore. These disorders must be screened for at birth.

It is common for dietary changes or vitamin supplements to be prescribed when a disorder is detected. Few babies with a history of metabolic disorders are screened in India because of the low awareness and high cost of screening. Since these disorders often appear in babies without a family history, this is inadequate.

In what ways are newborns screened?

An infant's heel is pricked, and a few drops of blood are placed on special filter paper for newborn screening. After drying, the piece is sent to the laboratory for testing. This test is usually performed when a baby is 24 or 72.

However, we do not have a family history of these disorders

Children with these disorders can be born to parents who don't have a family history of these problems and who already have healthy children. Many of these disorders are not passed down through families.

Positive results indicate what?

The positive results should not alarm parents since the screening provides preliminary information with high accuracy. Confirmatory testing should follow.

How do Inborn Errors of Metabolism (also known as Metabolic Disorders) occur?

Symptoms of these disorders arise when the body accumulates natural chemicals at abnormal levels. Various symptoms are present, including impaired physical development and mental retardation. Occasionally, they can lead to death. It is too late to treat infants with these disorders once symptoms appear, as they show no early signs of these disorders.

Disorders of metabolism (Basic)

  • A baby with phenylketonuria, also known as PKU, has difficulty breaking down one of the amino acids in a food (phenylalanine). A low-phenylalanine diet can prevent brain damage that would otherwise occur.

  • During hypothyroidism, the body does not produce enough of the hormone thyroxine. It is helpful to prevent mental retardation and growth retardation with thyroxine tablets.

  • Congenital Adrenal Hyperplasia (CAH) occurs when the body does not produce enough cortisol, a hormone. By taking hormone medications, you can prevent low blood sugar levels, salt loss, poor growth, and other abnormal changes in your body.

  • When the body lacks a chemical to break down milk sugar (galactose), galactosemia will result. In addition to preventing irreversible brain damage, eating a low-galactose diet can also help with other health issues.

  • An essential water-soluble vitamin, Biotin, suffers from a deficiency in its enzyme biotinidase. It will be lifesaving to treat with biotin.

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