Laboratory analysis of acylcarnitines, 2020 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(2): 249-258, 2021 02.
Article
em En
| MEDLINE
| ID: mdl-33071282
ABSTRACT
Acylcarnitine analysis is a useful test for identifying patients with inborn errors of mitochondrial fatty acid ß-oxidation and certain organic acidemias. Plasma is routinely used in the diagnostic workup of symptomatic patients. Urine analysis of targeted acylcarnitine species may be helpful in the diagnosis of glutaric acidemia type I and other disorders in which polar acylcarnitine species accumulate. For newborn screening applications, dried blood spot acylcarnitine analysis can be performed as a multiplex assay with other analytes, including amino acids, succinylacetone, guanidinoacetate, creatine, and lysophosphatidylcholines. Tandem mass spectrometric methodology, established more than 30 years ago, remains a valid approach for acylcarnitine analysis. The method involves flow-injection analysis of esterified or underivatized acylcarnitines species and detection using a precursor-ion scan. Alternative methods utilize liquid chromatographic separation of isomeric and isobaric species and/or detection by selected reaction monitoring. These technical standards were developed as a resource for diagnostic laboratory practices in acylcarnitine analysis, interpretation, and reporting.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Genética Médica
/
Laboratórios
Tipo de estudo:
Guideline
Limite:
Humans
/
Newborn
País/Região como assunto:
America do norte
Idioma:
En
Revista:
Genet Med
Ano de publicação:
2021
Tipo de documento:
Article