Developmental and Psychiatric Presentations of Inherited Metabolic Disorders

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.