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Neuropsychological Disorders in Moderate Hyperphenylalaninemia: Literature Review.
L Paermentier1,2,3, A Cano1,2, B Chabrol1,2
1Reference Center for Inborn Errors of Metabolism, Marseille University Children's Hospital, Marseille, France.
Developmental Neuropsychology
|January 3, 2023
Summary
Moderate hyperphenylalaninemia (mHPA) patients show preserved general cognition but often experience executive function difficulties. Further research is essential to understand and address these challenges for improved daily life outcomes.
Area of Science:
- Neuroscience
- Genetics
- Metabolic Disorders
Background:
- Moderate hyperphenylalaninemia (mHPA) is a condition characterized by phenylalanine levels below 360 μmol/l detected during newborn screening.
- Neurological impacts of mHPA are often presumed minimal, with limited investigation into specific neuropsychological profiles.
Approach:
- A systematic review was conducted to analyze existing research on the neuropsychological aspects of mHPA.
- The review focused on identifying cognitive strengths and weaknesses in individuals with mHPA.
Key Points:
- Cognitive functions such as intelligence, memory, and visuoperception appear to be generally preserved in mHPA patients.
- Several indicators suggest that individuals with mHPA may encounter executive function deficits.
Conclusions:
- While general cognitive abilities remain intact, executive function challenges are a notable concern in the mHPA population.
- Further comprehensive studies are recommended to explore the full neuropsychological profile of mHPA and its impact on daily functioning.
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