Neonatal screening for inborn errors of metabolism

 

Neonatal screening for inborn errors of metabolism You have missed the bus but last  train is still there à Many inherited  metabolic disorders can be routinely detected with newborn screening tests, (heel prick on day 3-day 5) allowing early treatment and healthy development. Such diseases are 40 in number and common tets are e.g :A) Phenylketonuria (PKU) B) Hypoothyridism  C) CAH D) Galactosemia E) sickle cell disease, : F) Tay-Sachs disease

What to do in case of  phenylketounria of neonates ? Ans The affected  babies can have brain damage. Babies who have phenylketounria are placed on a special diet that prevents mental retardation. Affected individuals generally should follow a special diet throughout life.

Galactosemia : Affected babies cannot process galactose which builds up and can lead to mental retardation, blindness and death. Affected individuals are treated with a special diet free of dairy products. Some metabolic disorders cannot yet be treated. An example is Tay-Sachs disease. Affected babies may have blindness, paralysis and death by age. At US and UK  each state, a small blood sample (“heel stick”) is collected from each newborn within 48 hours of birth and sent to a laboratory for testing for a panel of genetic disorders. Newborn screening programs may screen for up to 50 diseases, including phenylketonuria (PKU), sickle cell disease, and hypothyroidism. Almost every child born in the United States undergoes state-mandated newborn screening. For each state, a small blood sample (“heel stick”) is collected from each newborn within 48 hours of birth and sent to a laboratory for testing for a panel of genetic disorders. Newborn screening programs may screen for up to 50 diseases, including phenylketonuria (PKU), sickle cell disease, and hypothyroidism.

Q, 2: How useful is such newborn screening tests? About 3,000 newborns test positive each year for one of these severe disorders.

Q, 3: What to do if screen +ve ? In the event that a newborn screens positive for one of the disorders, screening allows early intervention that can lead to significant reduction in disease severity and possibly even prevention of the disease.