A 46-year-old member asked:
hi doctors, can you tell me what is hyperphenylalaninemia?
1 doctor answer • 2 doctors weighed in
Dr. Jay Parkanswered
Pediatrics 50 years experience
See below: Deficiency of phenylalanine hydroxylase or its cofactor result in high level of phenylalanine. The severe form (plasma concentration over 20mg/dl) is known as classic PKU (phenylketonuria). Without proper treatment, child gradually develops profound mental retardation.
3.9k viewsReviewed >2 years ago
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Last updated Jul 22, 2014
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