Human d-lactate dehydrogenase deficiency by
LDHD
ataxia
complex IV deficiency
developmental delay
d‐lactate dehydrogenase
neurological
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
Jul 2021
Jul 2021
Historique:
received:
15
01
2021
revised:
18
03
2021
accepted:
06
04
2021
entrez:
14
7
2021
pubmed:
15
7
2021
medline:
15
7
2021
Statut:
epublish
Résumé
d-lactate, one of the isomers of lactate, exists in a low concentration in healthy individuals and it can be oxidized to pyruvate catalyzed by d-lactate dehydrogenase. Excessive amount of d-lactate causes d-lactate acidosis associated with neurological manifestations. We report here a patient with developmental delay, cerebellar ataxia, and transient hepatomegaly. Enzyme analysis in the patient's skin fibroblast showed decreased mitochondrial complex IV activity. Using whole exome sequencing, we identified compound heterozygous variants in the This is the third report on
Sections du résumé
BACKGROUND
BACKGROUND
d-lactate, one of the isomers of lactate, exists in a low concentration in healthy individuals and it can be oxidized to pyruvate catalyzed by d-lactate dehydrogenase. Excessive amount of d-lactate causes d-lactate acidosis associated with neurological manifestations.
METHODS AND RESULTS
RESULTS
We report here a patient with developmental delay, cerebellar ataxia, and transient hepatomegaly. Enzyme analysis in the patient's skin fibroblast showed decreased mitochondrial complex IV activity. Using whole exome sequencing, we identified compound heterozygous variants in the
CONCLUSION
CONCLUSIONS
This is the third report on
Identifiants
pubmed: 34258137
doi: 10.1002/jmd2.12220
pii: JMD212220
pmc: PMC8260477
doi:
Types de publication
Case Reports
Langues
eng
Pagination
15-22Informations de copyright
© 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
J. S. is the CEO of Khondrion, a pharmaceutical company developing compounds to potentially treat mitochondrial disease. All the other authors declare that they have no conflict of interest.
Références
Mol Syst Biol. 2011 Oct 11;7:539
pubmed: 21988835
Plant Physiol. 2016 Oct;172(2):901-912
pubmed: 27506242
J Nutr. 2005 Jul;135(7):1619-25
pubmed: 15987839
Hum Mutat. 2013 Dec;34(12):1721-6
pubmed: 24123792
Genet Med. 2018 Sep;20(9):1054-1060
pubmed: 29300386
Anal Biochem. 1980 Feb;102(1):39-46
pubmed: 7356162
N Engl J Med. 1979 Aug 2;301(5):249-52
pubmed: 449991
J Clin Invest. 2019 Dec 2;129(12):5163-5168
pubmed: 31638601
Hum Genomics. 2020 Sep 10;14(1):28
pubmed: 32907636
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Biochemistry. 1979 Oct 16;18(21):4714-24
pubmed: 497162
Proc Natl Acad Sci U S A. 2000 Aug 15;97(17):9413-8
pubmed: 10944213
J Inherit Metab Dis. 2015 May;38(3):437-43
pubmed: 25735936
N Engl J Med. 2014 Dec 11;371(24):2309-19
pubmed: 25494270
Nat Commun. 2019 Apr 1;10(1):1477
pubmed: 30931947
Bioinformatics. 2016 Oct 1;32(19):2936-46
pubmed: 27318206
Biochim Biophys Acta. 2004 Feb 15;1608(2-3):104-13
pubmed: 14871487
Biochem Biophys Res Commun. 2002 Jul 26;295(4):910-6
pubmed: 12127981
Biochem J. 2002 Jul 15;365(Pt 2):391-403
pubmed: 11955284
Int J Biochem Cell Biol. 2017 Oct;91(Pt B):168-175
pubmed: 28743674
Nucleic Acids Res. 2009 May;37(9):e67
pubmed: 19339519
Clin Biochem. 2008 Sep;41(13):1099-103
pubmed: 18638467
Yeast. 1999 Sep 30;15(13):1377-91
pubmed: 10509019
N Engl J Med. 1965 Feb 18;272:351-5
pubmed: 14239117
Toxicol Lett. 1999 Nov 22;110(3):145-75
pubmed: 10597025
Ann Rheum Dis. 1972 Mar;31(2):137-44
pubmed: 5016863
Brain Dev. 2010 Sep;32(8):691-4
pubmed: 19917522
Gastroenterol Res Pract. 2015;2015:476215
pubmed: 25977687