Ornithine Transcarbamylase Deficiency Latest Advances

Find the Latest Research About Ornithine Transcarbamylase Deficiency

Last Updated: 09/26/2026

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Found 563 publications

Unexplained hyperammonemia in the emergency department: Late-onset ornithine transcarbamylase deficiency in a 75-year-old man.

Unexplained hyperammonemia in the emergency department: Late-onset ornithine transcarbamylase deficiency in a 75-year-old man.

Journal: The American journal of emergency medicine

Published: June 14, 2026

Fulminant hyperammonemia during intensive chemotherapy in the setting of previously unrecognized partial ornithine transcarbamylase deficiency.

Fulminant hyperammonemia during intensive chemotherapy in the setting of previously unrecognized partial ornithine transcarbamylase deficiency.

Journal: International journal of hematology

Published: June 02, 2026

Clinical and genetic analysis of Liver-Predominant ornithine transcarbamylase deficiency caused by a novel de novo OTC sequence variant in a female child.

Clinical and genetic analysis of Liver-Predominant ornithine transcarbamylase deficiency caused by a novel de novo OTC sequence variant in a female child.

Journal: Gene

Published: May 02, 2026

Fatal Late-Onset Ornithine Transcarbamylase Deficiency in an Adolescent: A Case Report.

Fatal Late-Onset Ornithine Transcarbamylase Deficiency in an Adolescent: A Case Report.

Journal: Cureus

Published: April 25, 2026

Metabolic mimicry of perioral myoclonia with absences: A signature of thalamocortical instability in childhood-onset ornithine transcarbamylase deficiency.

Metabolic mimicry of perioral myoclonia with absences: A signature of thalamocortical instability in childhood-onset ornithine transcarbamylase deficiency.

Journal: Epileptic disorders : international epilepsy journal with videotape

Published: April 03, 2026

Hyperammonemia-Associated Stroke-Like Episodes and Acute Liver Failure in an 11-Month-Old Infant With Probable Ornithine Transcarbamylase Deficiency: Diagnostic and Therapeutic Challenges in a Resource-Limited Setting.

Hyperammonemia-Associated Stroke-Like Episodes and Acute Liver Failure in an 11-Month-Old Infant With Probable Ornithine Transcarbamylase Deficiency: Diagnostic and Therapeutic Challenges in a Resource-Limited Setting.

Journal: Cureus

Published: February 27, 2026

Late-onset ornithine transcarbamylase deficiency with neurological damage and serial brain multimodality monitoring: a case report.

Late-onset ornithine transcarbamylase deficiency with neurological damage and serial brain multimodality monitoring: a case report.

Journal: Frontiers in medicine

Published: February 27, 2026

Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients.

Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients.

Journal: Molecular genetics & genomic medicine

Published: January 25, 2026

A Complex Case of Ornithine Transcarbamylase Deficiency in a Patient With Severe Comorbid Conditions.

A Complex Case of Ornithine Transcarbamylase Deficiency in a Patient With Severe Comorbid Conditions.

Journal: Clinical case reports

Published: December 06, 2025

A Young Man with Late-onset Ornithine Transcarbamylase Deficiency Successfully Treated with Prompt and Intensive Blood Purification Therapy for Severe Hyperammonemic Encephalopathy.

A Young Man with Late-onset Ornithine Transcarbamylase Deficiency Successfully Treated with Prompt and Intensive Blood Purification Therapy for Severe Hyperammonemic Encephalopathy.

Journal: Internal medicine (Tokyo, Japan)

Published: November 30, 2025

Rapamycin nanoparticles mitigate anti-AAV antibody formation in a mouse model of ornithine transcarbamylase deficiency.

Rapamycin nanoparticles mitigate anti-AAV antibody formation in a mouse model of ornithine transcarbamylase deficiency.

Journal: Molecular therapy. Advances

Published: November 18, 2025

Clinical heterogeneity, genotype, and neurological outcomes in six Palestinian patients with ornithine transcarbamylase deficiency.

Clinical heterogeneity, genotype, and neurological outcomes in six Palestinian patients with ornithine transcarbamylase deficiency.

Journal: BMC pediatrics

Published: November 14, 2025

Showing 1-12 of 563

Last Updated: 09/26/2026