A 54-year-old member asked:
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What is hyperphenylalaninemia? What causes it?

1 doctor answer
Dr. Susumu Inoue
53 years experience in Pediatric Hematology and Oncology
A genetic disease: Hyperphenylalanemia (non-PKU) is a genetic inherited disease. Usually each parent has a mutation in the metabolism of amino acid, phenylalanine. Both parents do not necessarily have an identical mutation. This condition is also usually picked up by newborn screening. Affected child must be carefully followed up by a specialist, since the patient needs a special formula devoid of phenyhlalanine.
Answered on Nov 30, 2014

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