Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders

María Elena Márquez-Caraveo 1, Isabel Ibarra-González 2, Rocío Rodríguez-Valentín 3, Miguel Ángel Ramírez-García 1 4, Verónica Pérez-Barrón 1, Eduardo Lazcano-Ponce 3, Marcela Vela-Amieva 5

Affiliations

PMID: 32880084
DOI: 10.1007/s10803-020-04682-2

Abstract

The objective of our study was to evaluate the frequency of treatable inborn errors of metabolism (IEM) in a clinical sample of Mexican children and adolescents with neurodevelopmental disorders (NDD). Amino acids and acylcarnitines in blood samples of 51 unrelated children and adolescents were analyzed by tandem mass spectrometry to detect treatable IEM of small molecules. One patient with isovaleric acidemia and autism spectrum disorder (ASD) and another with beta-ketothiolase deficiency and ASD/intellectual disability/attention-deficit/hyperactivity disorder (ADHD) were diagnosed, indicating an IEM frequency of 3.9% (1:26 subjects). The high frequency of treatable IEM indicates the need to perform a minimum metabolic screening as part of the diagnostic approach for patient with NDD, particularly when newborn screening programs are limited to a few disorders.

Keywords: Autism spectrum disorders; Inborn errors of metabolism; Intellectual disabilities; Metabolic screening; Neurodevelopmental disorders.