2 doctors weighed in:

Hi doctors, can you tell me what is hyperphenylalaninemia?

2 doctors weighed in
Dr. Jay Park
Pediatrics
1 doctor agrees

In brief: 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.

In brief: 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.
Dr. Jay Park
Dr. Jay Park
Thank