When Should My Baby Get Tested

Ideally, you should screen your baby between 2 to 7 days after birth. Although some severe metabolic disorders manifest very early, there are some inherited metabolic disorders that have late onset, or the affected individual may appear normal as long as there is no triggering events.

If your newborn baby has not yet been tested for metabolic disorders, it will still be beneficial for her to take Metascreen® test at 1-6 months of age to detect less severe variants of metabolic disorders and/or before she experiences triggering events, such as long period of fasting, or increase exposure to certain substances.

About Phenylketonuria (PKU)

This is an inherited disorder in which the body cannot breakdown one of the amino acids, known as phenylalanine (Phe), found in proteins. The signs and symptoms vary from mild to severe and usually are shown when the baby reaches a few months of age. However, if the condition is detected early for treatment, the affected baby can still lead a healthy life.

Your baby’s urine can be easily collected by inserting filter paper into the diaper without causing any harm or discomfort to your baby

Real stories: Early detection allows for timely intervention

Living On 7 Grams of Protein A Day
At birth, Eli was diagnosed with Phenylketonuria (PKU), that is, he lacks an enzyme in his liver that does not properly break down the amino acid, phenylalanine (Phe), commonly found in proteins. He doesn’t eat meat nor dairy, bread or pasta so as to maintain the diet of 7 grams of protein a day. Having to count everything Eli consumes is no easy feat, taking into account the special Phe-free diet and monthly blood draws to make sure his Phe levels are in a safe range. Yet there is a silver lining to the whole situation, PKU is treatable and none of those bad things will happen as long Eli maintains the diet of 7 grams of protein a day.

Did you know?

PKU statistics:
Overall odds that an Asian child be born with PKU is 1 in 14,515.1
More Real Stories
References

1.The Chinese University of Hong Kong (CUHK), Centre of Inborn Errors of Metabolism Statistics, http://www.obg.cuhk.edu.hk/wp-content/uploads/JHF_iem_30_list.pdf, Accessed on Oct 2015

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