Short-chain enoyl-CoA hydratase deficiency causes prominent ketoacidosis with normal plasma lactate levels: A case report.
ECHS1, Short-chain enoyl-CoA hydratase
HIBCH, 3-hydroxyisobutyryl-CoA hydrolase gene
SD, standard deviation
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:
Dec 2020
Dec 2020
Historique:
received:
23
09
2020
revised:
23
10
2020
accepted:
23
10
2020
entrez:
9
11
2020
pubmed:
10
11
2020
medline:
10
11
2020
Statut:
epublish
Résumé
We report a case of a 7-month-old boy with Short-chain enoyl-CoA hydratase (ECHS1) deficiency concomitant with prominent ketoacidosis, and no elevation in plasma lactate levels. He suddenly became unconscious, after he had a lot of defecation. He was referred to our hospital by a local doctor because of a right conjugate deviation and hypotonia. Initial investigations revealed severe anion gap metabolic acidosis, hyperuricemia, hyperketonemia, and normal lactate levels in the blood and cerebrospinal fluid. Magnetic resonance imaging of the brain showed abnormal signals in the bilateral caudate nucleus and globus pallidus, suggesting the possibility of inborn errors of metabolism. Thus, analysis of acylcarnitine analysis and urine organic acid was performed but could not help diagnose his condition. We then performed mutation analysis using a DNA panel. We found the following heterozygous mutations in
Identifiants
pubmed: 33163364
doi: 10.1016/j.ymgmr.2020.100672
pii: S2214-4269(20)30118-X
pmc: PMC7606867
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100672Informations de copyright
© 2020 The Authors.
Déclaration de conflit d'intérêts
None.
Références
Ann Clin Transl Neurol. 2015 May;2(5):492-509
pubmed: 26000322
J Inherit Metab Dis. 2020 Jul 3;:
pubmed: 32618366
Hum Mutat. 2015 Feb;36(2):232-9
pubmed: 25393721
Sci Transl Med. 2012 Jan 25;4(118):118ra10
pubmed: 22277967
Brain. 2014 Nov;137(Pt 11):2903-8
pubmed: 25125611
J Inherit Metab Dis. 2015 May;38(3):437-43
pubmed: 25735936
J Med Genet. 2015 Oct;52(10):691-8
pubmed: 26251176
JIMD Rep. 2019 Mar 14;46(1):23-27
pubmed: 31240151
BMC Pediatr. 2020 Feb 3;20(1):50
pubmed: 32013919
Nat Med. 2020 Sep;26(9):1392-1397
pubmed: 32778825
J Inherit Metab Dis. 2014 Jul;37(4):541-51
pubmed: 24706027
J Inherit Metab Dis. 2017 Sep;40(5):685-693
pubmed: 28429146