Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes.
IV, intravenous
Late onset
MRI, magnetic resonance imaging
Manifesting heterozygote
OTC, ornithine transcarbamylase
Ornithine transcarbamylase deficiency
Partial onset
UCD, urea cycle disorder
Urea cycle disorder
X-linked
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 2022
Dec 2022
Historique:
entrez:
9
1
2023
pubmed:
10
1
2023
medline:
10
1
2023
Statut:
epublish
Résumé
Urea cycle disorders (UCDs) are a group of rare inherited metabolic conditions caused by enzyme deficiency within the hepatic ammonia detoxification pathway. Ornithine transcarbamylase (OTC) deficiency, the most frequently occurring UCD, is an X-linked condition known to yield a vastly heterogeneous phenotype, with variable onset and presentation across the lifespan. Here, we introduce a series of 4 original cases, published as part of this special supplement, that illustrate learnings for the care of heterozygous females with OTC deficiency, including challenges with diagnosis, potential triggers of hyperammonemia, cognitive effects, and approaches to disease management, including peripartum care.
Identifiants
pubmed: 36620389
doi: 10.1016/j.ymgmr.2022.100941
pii: S2214-4269(22)00101-X
pmc: PMC9817477
doi:
Types de publication
Editorial
Langues
eng
Pagination
100941Informations de copyright
© 2022 The Author(s).
Déclaration de conflit d'intérêts
A Feigenbaum has received honoraria from Horizon Therapeutics plc for consulting/advisory activities unrelated to the development of this manuscript.
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