Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China.
ETFDH
glutaric acidemia type II
multiple acyl-CoA dehydrogenase deficiency
newborn screening
Journal
Journal of pediatric endocrinology & metabolism : JPEM
ISSN: 2191-0251
Titre abrégé: J Pediatr Endocrinol Metab
Pays: Germany
ID NLM: 9508900
Informations de publication
Date de publication:
26 May 2021
26 May 2021
Historique:
received:
07
12
2020
accepted:
22
02
2021
pubmed:
7
4
2021
medline:
24
11
2021
entrez:
6
4
2021
Statut:
epublish
Résumé
Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid, amino acid and choline metabolism. Late-onset MADD is caused by From January 2014 to June 2020, 479,786 newborns screened via tandem mass spectrometry were recruited for this study. Newborns with elevated levels of multiple acylcarnitines were recalled, those who tested positive in the reassessment were referred for genetic analysis. Of 479,786 newborns screened, six were diagnosed with MADD. The MADD incidence in the Chinese population was estimated to be 1:79,964. Initial NBS revealed five patients with typical elevations in the levels of multiple acylcarnitines; however, in one patient, acylcarnitine levels were in the normal reference range during recall. Notably, one patient only exhibited a mildly increased isovalerylcarnitine (C5) level at NBS. The patient with an atypical acylcarnitine profile was diagnosed with MADD by targeted gene sequencing. Six distinct These findings revealed that it is easy for patients with MADD to go unidentified, as they may have atypical acylcarnitine profiles at NBS and the recall stage, indicating the value of genetic analysis for confirming suspected inherited metabolic disorders in the NBS program. Therefore, false-negative (FN) results may be reduced by combining tandem mass spectrometry (MS/MS) with genetic testing in NBS for MADD.
Identifiants
pubmed: 33823107
pii: jpem-2020-0694
doi: 10.1515/jpem-2020-0694
doi:
Substances chimiques
acylcarnitine
0
Acyl-CoA Dehydrogenase
EC 1.3.8.7
Carnitine
S7UI8SM58A
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
649-652Informations de copyright
© 2021 Walter de Gruyter GmbH, Berlin/Boston.
Références
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