A Japanese case of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia.
HMG‐CoA synthase deficiency
fatty liver
glutarate
ketogenesis
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Jul 2019
Jul 2019
Historique:
received:
21
03
2019
revised:
15
05
2019
accepted:
15
05
2019
entrez:
9
8
2019
pubmed:
9
8
2019
medline:
9
8
2019
Statut:
epublish
Résumé
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency (mHS deficiency) is a rare autosomal recessive inborn error of ketogenesis caused by a mutation in the
Identifiants
pubmed: 31392109
doi: 10.1002/jmd2.12051
pii: JMD212051
pmc: PMC6606983
doi:
Types de publication
Case Reports
Langues
eng
Pagination
19-25Références
JIMD Rep. 2019 Jun 03;48(1):19-25
pubmed: 31392109
J Inherit Metab Dis. 2014 Jul;37(4):541-51
pubmed: 24706027
J Pediatr. 2002 Jun;140(6):778-80
pubmed: 12072887
Hum Genet. 2001 Jul;109(1):19-23
pubmed: 11479731
Int J Mol Sci. 2018 Mar 28;19(4):
pubmed: 29597274
J Inherit Metab Dis. 2012 Jan;35(1):23-8
pubmed: 21479626
J Inherit Metab Dis. 2006 Feb;29(1):207-11
pubmed: 16601895
Pediatr Res. 2001 Mar;49(3):326-31
pubmed: 11228257
Eur J Med Genet. 2013 Aug;56(8):411-5
pubmed: 23751782
Brain Dev. 2005 Jan;27(1):39-45
pubmed: 15626540
J Chromatogr B Analyt Technol Biomed Life Sci. 2002 Aug 25;776(1):39-48
pubmed: 12127323
Tohoku J Exp Med. 1999 Aug;188(4):317-34
pubmed: 10598689
JIMD Rep. 2018;40:63-69
pubmed: 29030856
J Inherit Metab Dis. 2014 Mar;37(2):207-13
pubmed: 23296367
Biochem Soc Trans. 1995 Aug;23(3):486-90
pubmed: 8566384
N Engl J Med. 1997 Oct 23;337(17):1203-7
pubmed: 9337379
J Inherit Metab Dis. 2015 May;38(3):459-66
pubmed: 25511235
Biochem J. 1999 Mar 15;338 ( Pt 3):569-82
pubmed: 10051425
Genomics. 1994 Oct;23(3):552-9
pubmed: 7851882
Eur J Pediatr. 2003 Apr;162(4):279-80
pubmed: 12647205
Gene. 1997 Aug 22;195(2):121-6
pubmed: 9305755
Pediatr Res. 1998 Sep;44(3):392-6
pubmed: 9727719