Late-onset argininosuccinic aciduria associated with hyperammonemia triggered by influenza infection in an adolescent: A case report.
ASA, argininosuccinic aciduria
ASL, argininosuccinate lyase
Adolescence
Argininosuccinic acid lyase deficiency
Argininosuccinic aciduria
Hyperammonemia
Influenza A
Late-onset
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:
Sep 2020
Sep 2020
Historique:
received:
14
03
2020
revised:
05
05
2020
entrez:
22
5
2020
pubmed:
22
5
2020
medline:
22
5
2020
Statut:
epublish
Résumé
Hyperammonemia is a typical symptom of urea cycle disorders. While early-onset argininosuccinic aciduria (ASA) can often be detected by hyperammonemia, patients with late-onset ASA predominantly present with psychomotor retardation and mental disorders. However, in late-onset ASA that develops during early childhood, hyperammonemia can sometimes be caused by acute infections, stress, and reduced dietary intake. Here, we report the case of a 14-year-old boy with late-onset ASA associated with hyperammonemia that was triggered by an influenza A infection. Due to the infection, he presented with a fever and was unable to eat food or take oral medication. He then experienced restlessness, a disturbance in his level of consciousness, and seizures. Hyperammonemia (3286 μg/dL, reference value ≤100 μg/dL) was detected. He was biochemically diagnosed with ASA based on increased serum and urinary argininosuccinic acid levels. Additionally, genetic testing revealed compound heterozygous mutations in the
Identifiants
pubmed: 32435591
doi: 10.1016/j.ymgmr.2020.100605
pii: S2214-4269(20)30051-3
pii: 100605
pmc: PMC7232106
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100605Informations de copyright
© 2020 The Authors.
Références
Hum Mutat. 2007 Jul;28(7):694-702
pubmed: 17326097
Malays J Pathol. 2010 Dec;32(2):87-95
pubmed: 21329179
Nat Commun. 2018 Aug 29;9(1):3505
pubmed: 30158522
J Inherit Metab Dis. 2019 Nov;42(6):1147-1161
pubmed: 30723942
Mol Genet Metab. 2014 Sep-Oct;113(1-2):127-30
pubmed: 25135652
Lancet. 1958 Jan 25;1(7013):182-7
pubmed: 13503250
J Pediatr. 2001 Jan;138(1 Suppl):S46-54; discussion S54-5
pubmed: 11148549
Proc Natl Acad Sci U S A. 1986 Oct;83(19):7211-5
pubmed: 3463959
J Inherit Metab Dis. 2019 Jan;42(1):93-106
pubmed: 30740724
Orphanet J Rare Dis. 2014 Nov 30;9:187
pubmed: 25433810
J Inherit Metab Dis. 2015 Nov;38(6):1059-74
pubmed: 25875216
J Inherit Metab Dis. 2015 Nov;38(6):1041-57
pubmed: 25875215
Hum Mutat. 2020 May;41(5):946-960
pubmed: 31943503
Cell Rep. 2019 Nov 19;29(8):2144-2153.e7
pubmed: 31747589
Biol Psychiatry. 1991 Dec 15;30(12):1229-32
pubmed: 1790264
Hum Mutat. 2014 Jan;35(1):27-35
pubmed: 24166829
J Inherit Metab Dis. 2017 May;40(3):357-368
pubmed: 28251416
Ann Clin Res. 1982 Jun;14(3):145-7
pubmed: 7137886
Genet Med. 2012 May;14(5):501-7
pubmed: 22241104