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Home > Events & Health Information > Diseases & Conditions > Metabolic Diseases > Metabolic disease (inborn errors of metabolism)

Metabolic disease (inborn errors of metabolism)


 


Doctors

The inborn errors of metabolism screening test is offered to all newborns in the hospital. The neonatal doctor, who screens your newborn and nurses, will ask for your agreement for baby to undergo this test.

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Signs & Symptoms

Babies with these conditions may appear well initially. They will become sick later with symptoms like vomiting, drowsiness, fits, neuro-developmental delay or even death.

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What causes it

Inborn errors of metabolism are a group of diseases which is inherited. The affected baby's body system cannot process normal substances present in milk and food due to lack of certain enzymes. Symptoms are caused by excessive amount of toxic chemicals in the baby's body.

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About the condition

Individually, an inborn error of metabolism is rare. However, technology used for the screening test, called Tandem Mass Spectrometry, allows detection of more than 25 inborn errors of metabolism. The chance of a baby having an inborn error of metabolism is 1 in every 4,000 to 5,000 babies.

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Diagnosis and Treatment Options

A few drops of blood are collected from the baby's heel before discharge for this screening test. If this screening test result is abnormal, baby will be asked to return for further tests and if subsequent results are very abnormal, the baby is referred to the paediatric metabolic disease specialist for further management.


Early detection will allow detailed confirmatory tests to be carried out. Treatment consists of special diets, supplements, and monitoring.

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