An incidental finding in newborn screening leading to the diagnosis of a patient with
2-methyl-2,3-dihydroxybutyric acid
3-hydroxy-butyrylcarnitine\3-hydoxy-isobutyrylcarnitine
3MGA, 3-methylglutaconic acid
C3DC, malonylcarnitine
C4OH, 3-hydroxy-butyrylcarnitine\3-hydoxy-isobutyrylcarnitine
C5:1, tiglylcarnitine
DBS, dried blood spot
DUS, dried urine spot
ECHS1 deficiency
ECHS1, short-chain enoyl-CoA hydratase
GC, gas chromatography
HIBCH, 3-hydroxy-isobutyryl-CoA hydrolase
MRI, magnetic resonance imaging
MS, mass spectrometry
Mutations in ECHS1
NBS, Newborn Screening
Newborn screening
PDH, pyruvate dehydrogenase
TMS, trimethylsilyl
Tiglylcarnitine
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Mar 2020
Mar 2020
Historique:
received:
10
10
2019
revised:
16
12
2019
accepted:
17
12
2019
entrez:
8
1
2020
pubmed:
8
1
2020
medline:
8
1
2020
Statut:
epublish
Résumé
Short-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism. ECHS1 deficiency has multiple manifestations, including Leigh syndrome early at birth or in childhood with poor prognosis, to cutis laxa, exercise-induced dystonia and congenital lactic acidosis. Here we describe the case of a newborn with mutations in ECHS1 that caught our attention after the incidental finding of 3-hydroxy-butyryl\3-hydroxy-isobutyryl\malonylcarnitine (C4OH\C3DC) and tiglylcarnitine (C5:1) on blood spot in the newborn screening (NBS) program. Diagnosis was suspected based on the analysis of organic acids on dried urine spot. A moderate increase of 2-methyl-2,3-dihydroxybutyric acid, was detected, which is a known marker of this disease. Exome analysis showed c.404A>G (p.Asn135Ser) mutation in homozygosis in the
Identifiants
pubmed: 31908952
doi: 10.1016/j.ymgmr.2019.100553
pii: S2214-4269(19)30185-5
pii: 100553
pmc: PMC6940607
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100553Informations de copyright
© 2019 Published by Elsevier Inc.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to disclose.
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