Last update:
21-Apr-2019

Inborn errors of metabolism may be associated with various, multisystemic clinical manifestations. This is a literature review of data on the need for metabolic screening of children with neuropsychiatric signs and symptoms. The inborn errors of metabolism most frequently associated with epilepsy are organic acidurias and carnitine deficiency, and children with these deficiencies usually also exhibit psychomotor retardation and have a positive family history for seizures. The age at presentation and the type of seizures provide useful clues for the diagnostic approach. An organic aciduria may also be the underlying disorder in cases of cerebral palsy, especially when extrapyramidal or dystonic symptoms are present. Conversely, inborn errors of metabolism are only a rare cause of isolated mental retardation among children. Concerning children with autism spectrum disorder, the approach should be individualized and based primarily on the clinical findings and the family history. Finally, attention deficit hyperactivity disorder and some psychiatric diseases can in rare cases be associated with specific inborn errors of metabolism. For this reason, it is important to increase familiarity and awareness amongst psychiatric and neurological professionals of these less frequent entities, and to promote referral for the appropriate metabolic screening.

Key words: Children, Inborn errors of metabolism, Metabolic disorders, Metabolic screening, Neurological manifestations, Neurological signs.