Metabolic Screening Tests

Metabolic tests are inherited disorders called “Inborn Errors of Metabolism” which can affect the infant’s normal and physical mental development in a variety of ways. Parents can pass on a particular gene for a certain disorder without even knowing that they are carriers. Although these conditions are rare, early diagnosis and proper treatment can make the difference between lifelong impairment and healthy development. The infant mortality rate due to these metabolic disorders is about 10 in every 1000 in developed countries whereas in India it is 10 times more. However doctors say that about 15-20% of deaths can be prevented by carrying out these screening tests.

There a variety of metabolic tests that can be done to screen the newborn.

The test is performed by simply pricking the baby’s heel and collecting a few drops of blood on a special filter paper. The paper is allowed to dry and then sent to the newborn screening laboratory where different tests will be performed using an advance technology called Mass Spectrometry. A fresh needle called lancet is used for every baby so that there is no chance of infection.

A simple urine test can also be carried out. However it does not rule out the biochemical panel of diseases.

Biochemical Panel

This consists of tests for G6PD, GALT& Biotinidase deficiency as well tests for CH,CAH,CF.

G6PD deficiency occurs when the patient does not have enough of the G6PD enzyme which protects the red blood cells in the body. This is a hereditary disorder wherein the red blood cells breakdown when exposed to certain foods, drugs or severe stress. This is called hemolytic anaemia.

GALT deficiency is also a genetic condition wherein the lack of the enzyme GALT ( galactose -1-phosphate uridyl transferase) causes a metabolic disease called galactosemia. Babies with galactosemia are unable to digest the simple sugar galactose which is present in milk. If an infant with galactosemia is given milk it can result in liver damage, mental retardation, cataract causing blindness and kidney failure.Once the disease is recognized the infant can be fed with lactose free formula.