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

Autor/inn/en	Márquez-Caraveo, María Elena; Ibarra-González, Isabel; Rodríguez-Valentín, Rocío; Ramírez-García, Miguel Ángel; Pérez-Barrón, Verónica; Lazcano-Ponce, Eduardo; Vela-Amieva, Marcela
Titel	Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders
Quelle	In: Journal of Autism and Developmental Disorders, 51 (2021) 6, S.2124-2131 (8 Seiten) PDF als Volltext Verfügbarkeit
Zusatzinformation	ORCID (Vela-Amieva, Marcela)
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0162-3257
DOI	10.1007/s10803-020-04682-2
Schlagwörter	Foreign Countries; Mexicans; Clinical Diagnosis; Genetic Disorders; Metabolism; Children; Adolescents; Neurological Impairments; Developmental Disabilities; Spectroscopy; Identification; Autism; Attention Deficit Hyperactivity Disorder; Screening Tests; Intellectual Disability; Mexico + Suchen Sie Ihr Suchwort? Ausland; Mexikaner; Stoffwechsel; Child; Kind; Kinder; Adolescent; Adolescence; Adoleszenz; Jugend; Jugendalter; Jugendlicher; Neurodegenerative Erkrankung; Entwicklungsstörung; Spektroskopie; Identifikation; Identifizierung; Autismus; Screening-Verfahren; Intellect; Disability; Disabilities; Verstand; Behinderung; Mexiko
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. (As Provided).
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Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2022/1/01