Inborn Errors of Metabolism
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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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