Neurocognitive Impairment in Inherited Metabolic Disorders due to Intoxication and Energy Defects: A Systematic Review.

ABSTRACT: Inherited metabolic disorders (IMD) can disrupt brain development and functioning, leading to cognitive and behavioral abnormalities. This systematic review aims to provide a comprehensive synthesis of the evidence regarding neurocognitive impairments in intoxication IMD due to the accumulation of small molecule disorders and energy-related IMD. A search was conducted in the PubMed database until August 2024, using the term "cognition" and up to 421 energy-related IMD and 196 intoxication IMD. Reviews, animal models, studies with non-standardized measures, and studies that focused on complex molecule disorders, small molecule deficiencies, and phenylketonuria were excluded. In total, 163 studies were included in the final analysis. The cognitive domains assessed were executive functions, a

SUBMITTER: Gil-Gonzalez M 

PROVIDER: S-EPMC12382599 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature