With modern medical advancements, it is treatable, and it is recommended to seek early treatment.

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Is a phenylketonuria index of 2 considered normal, and how to detect and treat it early?

My baby was found to potentially have phenylketonuria at 30 days old, and is currently undergoing a detailed re-examination. The hospital’s standard is 2.0, and my friend’s child’s result is exactly at 2.0, hovering between normal and abnormal, causing great concern about developing the disease. Is a phenylketonuria index of 2 considered normal?

A newborn heel prick blood test reveals an abnormal increase in the PHE value. Could it indicate phenylketonuria? Further tests are needed to confirm the diagnosis.

A newborn heel prick test shows elevated phenylalanine levels, and urine tests also show abnormalities, suggesting the possibility of phenylketonuria. Further genetic screening and intelligence assessment are needed.

Why does a newborn need to undergo a phenylketonuria re-examination? Is this test necessary to be done?

What are the diagnostic indicators for phenylketonuria?

Phenylketonuria and hyperphenylalaninemia are the same amino acid metabolic disorder, belonging to autosomal recessive inheritance.

Phenylketonuria is a congenital metabolic disorder, primarily treated through dietary therapy. Early detection and treatment yield better outcomes.