Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopm
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BRIEF REPORT
Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders María Elena Márquez‑Caraveo1 · Isabel Ibarra‑González2 · Rocío Rodríguez‑Valentín3 · Miguel Ángel Ramírez‑García1,4 · Verónica Pérez‑Barrón1 · Eduardo Lazcano‑Ponce3 · Marcela Vela‑Amieva5
© Springer Science+Business Media, LLC, part of Springer Nature 2020
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 · Intellectual disabilities · Neurodevelopmental disorders · Inborn errors of metabolism · Metabolic screening
María Elena Márquez-Caraveo and Isabel Ibarra-González contributed equally to this manuscript. * Marcela Vela‑Amieva [email protected] 1
Hospital Psiquiátrico Infantil “Dr. Juan N. Navarro”, Secretaría de Salud, San Buenaventura 86, Col. Belisario Domínguez, CP 14080 Mexico, Mexico
2
Unidad de Genética de la Nutrición, Instituto de Investigaciones Biomédicas, UNAM- Instituto Nacional de Pediatría, Av. IMAN 1, Col. Insurgentes‑Cuicuilco, Coyoacán, CP 04530 Mexico, Mexico
3
Centro de Investigación en Salud Poblacional, Instituto Nacional de Salud Pública, Universidad 655, Col. Santa María Ahuacatitlán, Cerrada los Pinos y Caminera, CP 62100 Cuernavaca Morelos, Mexico
4
Departamento de Genética, Instituto Nacional de Neurología y Neurocirugía, Secretaría de Salud, Av. Insurgentes Sur 3877, Col. La Fama, CP 14269 Mexico, Mexico
5
Laboratorio de Errores Innatos del Metabolismo y Tamiz, Instituto Nacional de Pediatría, Secretaría de Salud, Av. IMAN #1, piso 9, Col. Insurgentes‑Cuicuilco, Coyoacán, CP 04530 Mexico, Mexico
Neurodevelopmental disorders (NDD), including autism spectrum disorder (ASD), intellectual developmental disorder/intellectual disability (IDD/ID), and attention-deficit/ hyperactivity disorder (ADHD), are a group of medical conditions characterized by early emergence; a continuing course; abnormal neural circuit development; dysfunctions in cognition, learning, communication and behavior; and within cluster comorbidity (e.g., ASD/IDD, ASD/ADHD IDD/ADHD) (Bertelli et al. 2016). The IDD Mexico Study (Lazcano-Ponce et al. 2016) aimed to generate scientific evide
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