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Neuropsychological function in mild hyperphenylalaninemia.

M L Smith¹, J Saltzman, P Klim

¹University of Toronto at Mississauga. smithml@psych.utoronto.ca

American Journal of Mental Retardation : AJMR

|February 7, 2001

Summary

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Mild hyperphenylalaninemia (MHP) does not appear to cause cognitive deficits. Individuals with MHP showed no significant differences in executive function or other cognitive measures compared to controls.

Area of Science:

Neuroscience
Metabolic Disorders
Genetics

Background:

Phenylketonuria (PKU) is associated with cognitive deficits due to frontal-lobe dysfunction.
Mild hyperphenylalaninemia (MHP) involves milder elevations in phenylalanine levels than PKU.

Purpose of the Study:

To investigate if cognitive deficits seen in PKU are also present in individuals with MHP.
To determine if mild phenylalanine elevations impact executive function and cognitive control.

Main Methods:

Administered executive function tests and control tasks to individuals with MHP and a control group.
Matched groups for age, gender, and IQ.
Included academic skills tests and behavior-rating questionnaires for the MHP group.

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Main Results:

No significant group differences were observed in executive function or control tasks.
Academic skills and behavioral ratings in the MHP group did not show impairments.

Conclusions:

Mild hyperphenylalaninemia is not sufficient to cause the cognitive impairments characteristic of PKU.
Elevated phenylalanine levels in MHP do not appear to lead to behavioral or cognitive deficits.