AI Article Synopsis
- The study aimed to assess how common treatable inborn errors of metabolism (IEM) are in Mexican children and teens with neurodevelopmental disorders (NDD).
- The research involved analyzing blood samples from 51 unrelated individuals using tandem mass spectrometry to identify these metabolic disorders.
- The findings revealed a 3.9% diagnosis rate of two treatable IEM cases, suggesting that metabolic screening should be included in the diagnostic process for NDD, especially where newborn screening is limited.
Article 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.
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| http://dx.doi.org/10.1007/s10803-020-04682-2 | DOI Listing |
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