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Updated: May 14, 2026

Generation of Human Brain Organoids for Mitochondrial Disease Modeling
Published on: June 21, 2021
Developmental and psychiatric presentations of inherited metabolic disorders
Sinan Turnacioglu1, Andrea L Gropman
1Department of Neurology, Children's National Medical Center and George Washington University of the Health Sciences, Washington, DC 20010, USA.
Abstract:
Pediatric neurologists and developmental pediatricians may evaluate patients with primary or associated behavioral and academic concerns. A critical element of the evaluation involves determining that the child's condition is not better explained by underlying inherited metabolic disorders. In this review, psychiatric and behavioral presentations of inherited metabolic disorders are discussed via several case studies. Key features of vignettes will illustrate when to consider these disorders in evaluating children referred for psychiatric and behavioral changes, after more common etiologies have been excluded. We seek to develop a better understanding of key clinical pearls to help identify children with an inherited metabolic disorder to account for behavioral or academic concerns.
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