Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase Deficiency.
adults
clinical manifestations
late-onset OTC deficiency
urea cycle disorders
Journal
Children (Basel, Switzerland)
ISSN: 2227-9067
Titre abrégé: Children (Basel)
Pays: Switzerland
ID NLM: 101648936
Informations de publication
Date de publication:
09 Aug 2023
09 Aug 2023
Historique:
received:
01
07
2023
revised:
24
07
2023
accepted:
07
08
2023
medline:
26
8
2023
pubmed:
26
8
2023
entrez:
26
8
2023
Statut:
epublish
Résumé
Ornithine transcarbamylase deficiency (OTCD) is the most common inherited disorder of the urea cycle and, in general, is transmitted as an X-linked recessive trait. Defects in the OTC gene cause an impairment in ureagenesis, resulting in hyperammonemia, which is a direct cause of brain damage and death. Patients with late-onset OTCD can develop symptoms from infancy to later childhood, adolescence or adulthood. Clinical manifestations of adults with OTCD vary in acuity. Clinical symptoms can be aggravated by metabolic stressors or the presence of a catabolic state, or due to increased demands upon the urea. A prompt diagnosis and relevant biochemical and genetic investigations allow the rapid introduction of the right treatment and prevent long-term complications and mortality. This narrative review outlines challenges in diagnosing and managing patients with late-onset OTCD.
Identifiants
pubmed: 37628367
pii: children10081368
doi: 10.3390/children10081368
pmc: PMC10453542
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Références
Liver Transpl. 2005 Nov;11(11):1332-42
pubmed: 16237708
JHEP Rep. 2019 Dec 27;2(1):100065
pubmed: 32039406
Pediatr Res. 2018 Jan;83(1-2):232-240
pubmed: 29149103
Ann Neurol. 2004 Jan;55(1):80-6
pubmed: 14705115
Neurohospitalist. 2019 Jan;9(1):30-36
pubmed: 30671162
Case Rep Crit Care. 2013;2013:493216
pubmed: 24804122
Front Med (Lausanne). 2021 Feb 25;8:652358
pubmed: 33738294
Orphanet J Rare Dis. 2020 Aug 18;15(1):210
pubmed: 32811506
Brain Behav. 2022 Oct;12(10):e2765
pubmed: 36128655
J Inherit Metab Dis. 2016 Mar;39(2):219-29
pubmed: 26634836
Med J Aust. 2015 Dec 14;203(11):445-7
pubmed: 26654615
J Med Case Rep. 2015 Nov 23;9:267
pubmed: 26593089
BMC Neurol. 2020 Apr 6;20(1):118
pubmed: 32252669
Am J Med Genet. 1997 Jan 20;68(2):236-9
pubmed: 9028466
Am J Hum Genet. 2023 May 4;110(5):863-879
pubmed: 37146589
BMC Gastroenterol. 2022 Mar 28;22(1):144
pubmed: 35346058
Ann Clin Biochem. 2010 May;47(Pt 3):279-81
pubmed: 20406775
Pediatrics. 2019 Feb;143(2):
pubmed: 30705144
Ann Neurol. 2019 Jul;86(1):116-128
pubmed: 31018246
Pediatr Int. 2015;57(1):e1-3
pubmed: 25711267
Diagnostics (Basel). 2022 Feb 05;12(2):
pubmed: 35204506
Mol Genet Metab. 2014 Sep-Oct;113(1-2):136-41
pubmed: 24881970
Life (Basel). 2022 Oct 27;12(11):
pubmed: 36362876
Orphanet J Rare Dis. 2020 Dec 3;15(1):340
pubmed: 33272297
Sci Adv. 2020 Feb 12;6(7):eaax5701
pubmed: 32095520
Mol Ther. 2018 Mar 7;26(3):801-813
pubmed: 29433939
JIMD Rep. 2022 Apr 12;63(4):271-275
pubmed: 35822098
J Mother Child. 2020 Nov 10;24(2):53-64
pubmed: 33554501
J Inherit Metab Dis. 2019 Nov;42(6):1136-1146
pubmed: 30932189
J Genet Genomics. 2015 May 20;42(5):181-94
pubmed: 26059767
Arch Dis Child. 2001 Jan;84(1):84-88
pubmed: 11124797
J Hepatol. 2010 Feb;52(2):292-5
pubmed: 20031247
J Inherit Metab Dis. 2017 Jul;40(4):497-517
pubmed: 28567541
J Inherit Metab Dis. 2014 Jan;37(1):21-30
pubmed: 23780642
Clin Liver Dis (Hoboken). 2021 Sep 01;18(4):198-203
pubmed: 34745578
Am J Med Genet A. 2019 Oct;179(10):2091-2100
pubmed: 31441224
Mol Ther Methods Clin Dev. 2021 Sep 14;23:135-146
pubmed: 34703837
Acute Med Surg. 2020 Sep 08;7(1):e565
pubmed: 32995020
Case Rep Neurol Med. 2015;2015:453752
pubmed: 25949836
Front Pediatr. 2020 Jul 23;8:321
pubmed: 32793520
Mol Genet Metab. 2003 Sep-Oct;80(1-2):148-58
pubmed: 14567964
J Inherit Metab Dis. 2004;27(2):285-8
pubmed: 15243986
Nature. 2014 Feb 20;506(7488):382-6
pubmed: 24390344
Mol Genet Metab. 2023 Jul;139(3):107609
pubmed: 37245377
Arch Pediatr. 2018 Jun 15;:
pubmed: 29914755
Hum Mutat. 2018 Apr;39(4):527-536
pubmed: 29282796
J Korean Med Sci. 2007 Jun;22(3):572-6
pubmed: 17596675
J Hum Genet. 2015 Sep;60(9):501-7
pubmed: 25994866
Front Physiol. 2021 Oct 01;12:748249
pubmed: 34658931
Mol Genet Metab Rep. 2022 Dec 15;33(Suppl 1):100941
pubmed: 36620389
Am J Case Rep. 2022 Nov 15;23:e937658
pubmed: 36377209
J Inherit Metab Dis. 2018 Jan;41(1):81-90
pubmed: 29027067
J Am Coll Nutr. 1986;5(2):153-66
pubmed: 3522704
Nat Biotechnol. 2016 Mar;34(3):334-8
pubmed: 26829317
Case Rep Crit Care. 2017;2017:8724810
pubmed: 29279777
Lancet. 2021 Aug 28;398(10302):e11
pubmed: 34454677
Orphanet J Rare Dis. 2014 Jul 16;9:105
pubmed: 25026867
Prenat Diagn. 2000 Dec;20(13):1048-54
pubmed: 11180228
Case Reports Hepatol. 2019 Oct 2;2019:2313791
pubmed: 31662921
Am J Perinatol. 2010 Nov;27(10):775-84
pubmed: 20458665
Mol Genet Metab Rep. 2022 Jul 30;33(Suppl 1):100906
pubmed: 36620388
Mol Genet Metab. 2017 Apr;120(4):299-305
pubmed: 28283349
Int J Clin Exp Med. 2015 Feb 15;8(2):2656-61
pubmed: 25932215
Ann Intensive Care. 2021 Jan 6;11(1):2
pubmed: 33409766
Mol Ther. 2021 May 5;29(5):1903-1917
pubmed: 33484963
BMJ Case Rep. 2021 May 25;14(5):
pubmed: 34035022
J Biol Chem. 1996 Feb 16;271(7):3639-46
pubmed: 8631974
Mol Genet Metab Rep. 2022 Sep 09;33(Suppl 1):100916
pubmed: 36620385
Hum Mutat. 2002 Feb;19(2):93-107
pubmed: 11793468
Case Rep Womens Health. 2022 Jan 30;34:e00390
pubmed: 35601507
Mol Ther. 2006 Jul;14(1):25-33
pubmed: 16677864
Mol Genet Metab. 2018 Mar;123(3):297-300
pubmed: 29396029
JIMD Rep. 2017;31:11-14
pubmed: 27000017
Mol Genet Metab Rep. 2022 Jul 02;33(Suppl 1):100891
pubmed: 36620387
Neurosci Lett. 1994 Aug 29;178(1):63-5
pubmed: 7816342
Am J Emerg Med. 2016 Jul;34(7):1324.e3-4
pubmed: 26776297
Reprod Biomed Online. 2000;1(2):45-7
pubmed: 12804198
J Inherit Metab Dis. 2019 Nov;42(6):1192-1230
pubmed: 30982989
Hum Mol Genet. 2019 Oct 1;28(R1):R42-R48
pubmed: 31227828
Orphanet J Rare Dis. 2015 May 10;10:58
pubmed: 25958381
Hum Gene Ther. 2019 Oct;30(10):1180-1189
pubmed: 31179759
J Inherit Metab Dis. 1998;21 Suppl 1:6-20
pubmed: 9686341