⌘+K

Pulse Explore Clubs Researchers Journals

Home Clubs Explore

August 1, 2024CureusOpen Access

Neonatal Presentation of Ornithine Transcarbamylase Deficiency Associated With a Hypomorphic OTC Variant (p.Leu301Phe) Previously Reported in Later-Onset Disease

Sharon Anderson Molly Ciarlariello Christina Botti Milen Velinov

View Full Paper

Ask AI

Bookmark

Share

Abstract

Ornithine transcarbamylase deficiency (OTCD) is the most common subtype of urea cycle disorders. Caused by mutations in the X-linked gene

Discussion

No takes yet. Share an insight, caveat, or question.

Cite This Study

Anderson et al. (2024) studied this question.

synapsesocial.com/papers/68e5e0e7b6db643587575111 https://doi.org/10.7759/cureus.65956

View Full Paper

Ask AI

Bookmark

Share

Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Clinical heterogeneity, genotype, and neurological outcomes in six Palestinian patients with ornithine transcarbamylase deficiencyOriginal Research · 2026
2Asymptomatic Presentation of Neonatal Ornithin Transcarbamylase Deficiency: A Rare Case ReportCase Report · 2026
3Perinatal management and follow-up in a child with a prenatal diagnosis of OTC deficiency: a case report2024 · 1 citations
4Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients.Original Research · 2026
5Fatal Neonatal Hyperammonemia Caused by a Novel Large Deletion in the OTC Gene: A Case Report with Genotype-Phenotype CorrelationCase Report · 2026