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Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic
Marta Gil-González1,2, Carolina Arias3, Jean-Marie Saudubray4
1Institut of Neuroscience (INc), Universitat Autònoma Barcelona, Bellaterra, Spain.
Journal of Inherited Metabolic Disease
|August 27, 2025
Summary
Inherited metabolic disorders (IMD) impact cognitive function. This review found no significant differences in neurocognitive impairments between intoxication and energy-related IMD, though specific deficits varied.
Area of Science:
- Neuroscience
- Metabolic Disorders
- Cognitive Science
Background:
- Inherited metabolic disorders (IMD) can severely affect brain development and function, leading to cognitive and behavioral issues.
- Understanding neurocognitive impairments in IMD is crucial for early intervention and management.
- This review synthesizes evidence on cognitive deficits in intoxication and energy-related IMD.
Approach:
- Systematic review of PubMed literature up to August 2024.
- Included studies focused on small molecule accumulation and energy metabolism disorders.
- Excluded reviews, animal models, non-standardized measures, and specific disorder types like phenylketonuria.
Key Points:
- 163 studies analyzed cognitive domains including executive functions, attention, and fine motor dexterity.
- Intoxication IMD showed better global cognitive functioning than energy defects, but no statistical difference in impairment severity.
- Fine motor dexterity, behavioral regulation, executive functions, and attention were most frequently impaired across IMDs.
Conclusions:
- Neurocognitive impairments are common in inherited metabolic disorders and may persist despite treatment.
- While overall impairment levels were similar, language deficits were more noted in intoxication IMD, and visuospatial deficits in energy-related IMD.
- Further research using standardized cognitive measures is essential to elucidate the pathophysiology of these impairments.
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