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ornithine aminotransferase deficiency (GACR) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Nyctalopia, Macular thickening, Hyperornithinemia, and Foveoschisis and others. 11 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	4	Macular thickening, Blindness, Visual impairment
Muscles	2	Proximal muscle weakness, Chorioretinal atrophy
Lab test results	1	Abnormal electrical muscle activity (EMG) (emg abnormality)

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

3 clinical trials registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

34 publications have been identified in PubMed for ornithine aminotransferase deficiency. Research spans Basic Science / Preclinical (29%), Case Report / Case Series (26%), and Review / Meta-Analysis (9%).

Research Type	Count	% of Total
Laboratory research	10	29%
Patient case studies	9	26%
Research summaries	3	9%
Clinical study results	3	9%
Disease patterns and progression	3	9%
New treatment approaches	3	9%
Other research	2	6%
Testing and diagnosis research	1	3%

Recent Publications

Zehar S (2026). [PMID: 41955657](https://pubmed.ncbi.nlm.nih.gov/41955657/). *J Fr Ophtalmol*. [Other]
Fong N (2026). [PMID: 41575622](https://pubmed.ncbi.nlm.nih.gov/41575622/). *Documenta ophthalmologica. Advances in ophthalmology*. [Epidemiology / Natural History]
Sharma SV (2026). [PMID: 40591952](https://pubmed.ncbi.nlm.nih.gov/40591952/). *Retina (Philadelphia, Pa.)*. [Basic Science / Preclinical]
Alferayan YA (2026). [PMID: 41483469](https://pubmed.ncbi.nlm.nih.gov/41483469/). *The American journal of case reports*. [Basic Science / Preclinical]
Aktaşoğlu EÖ (2026). [PMID: 41699715](https://pubmed.ncbi.nlm.nih.gov/41699715/). *Orphanet journal of rare diseases*. [Epidemiology / Natural History]
Floriani F (2026). [PMID: 41887919](https://pubmed.ncbi.nlm.nih.gov/41887919/). *Proteins*. [Review / Meta-Analysis]
Elnahry AG (2026). [PMID: 32491691](https://pubmed.ncbi.nlm.nih.gov/32491691/). *Unknown Journal*. [Case Report / Case Series]
Taniai H (2026). [PMID: 42064147](https://pubmed.ncbi.nlm.nih.gov/42064147/). *Case Rep Ophthalmol Med*. [Case Report / Case Series]
Bierbrier J (2026). [PMID: 42220020](https://pubmed.ncbi.nlm.nih.gov/42220020/). *Ophthalmic Genet*. [Case Report / Case Series]
Summerlin M (2026). [PMID: 42184784](https://pubmed.ncbi.nlm.nih.gov/42184784/). *Mol Genet Metab*. [Other]

Latest News & Developments

4 recent

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AI-curated news mentioning ornithine aminotransferase deficiency

Updated Jul 31, 2026

Treatment & Clinical News•

Science & Discovery

•about 2 months ago(Jul 31)

Editorial: Gene therapies are too special to treat like other drugs

In 1999, 18-year-old Jesse Gelsinger died in a clinical trial meant to test the safety of an adenovirus vector in support of a potential gene therapy treatment for ornithine transcarbamylase deficiency, a genetic liver disease. A recent tragedy in China reminds us of important lessons for managing drug trials of gene therapies And while fundamental research in support of gene therapies continued, it wasn’t until 2014 that the US ran another clinical trial on a gene therapy. In 2026, we must not let this latest incident set us back. The promise of gene therapy is far too great, and to realize that promise requires a bold leap forward that will protect patients and the science. At their best, gene therapies offer potential one-time, permanent cures for debilitating genetic disease. Gene therapies are not like any other drug. It’s true that death is a, thankfully, rare part of some drug trials. But gene therapy’s greatest advantage—its permanence—is also a great weakness in a clinical trial: you can’t stop once you’ve begun. If a patient has a negative reaction to a more typical drug, the overseeing clinician can stop a subsequent administration. Typical drug trials have also become routine. Institutional review boards generally know what to look for before approving a trial. And often the drugs being tested now are built on several generations of drugs tested before. Our knowledge and experience create a safety net. ... But gene therapy is a new business.

PubMed Rare Disease•

Science & Discovery

•5 months ago(Apr 29)

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

A study identifies two cryptic variants in the OTC gene responsible for ornithine transcarbamylase deficiency in unrelated Chinese male patients. This research enhances understanding of the genetic underpinnings of this rare metabolic disorder.

Treatment & Clinical News•

Pipeline & Approvals

•6 months ago(Mar 12)

Ultragenyx Announces Positive 36-Week Data from Phase 3 Study of DTX301 AAV8 Gene Therapy for the Treatment of Ornithine Transcarbamylase (OTC) Deficiency

Ultragenyx reports positive 36-week data from its Phase 3 study of DTX301, an AAV8 gene therapy for ornithine transcarbamylase (OTC) deficiency. This therapy aims to address the unmet needs of over 10,000 patients affected by OTC deficiency, particularly those with late-onset forms of the disease.

Gene & Cell Therapy•

Science & Discovery

•7 months ago(Feb 28)

PackGene's Advanced Capabilities in AAV Gene Therapy for Rare Diseases | PackGene Biotech

PackGene Biotech is advancing AAV gene therapy for rare diseases, focusing on novel capsids for targeted delivery and dual-vector strategies for large genes. Ongoing trials are investigating therapies for glycogen storage diseases, urea cycle disorders like ornithine transcarbamylase deficiency, and phenylketonuria.

View all news for ornithine aminotransferase deficiency

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ornithine aminotransferase deficiency

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Editorial: Gene therapies are too special to treat like other drugs

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

Ultragenyx Announces Positive 36-Week Data from Phase 3 Study of DTX301 AAV8 Gene Therapy for the Treatment of Ornithine Transcarbamylase (OTC) Deficiency

PackGene's Advanced Capabilities in AAV Gene Therapy for Rare Diseases | PackGene Biotech

ornithine aminotransferase deficiency

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Latest News & Developments

Editorial: Gene therapies are too special to treat like other drugs

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

Ultragenyx Announces Positive 36-Week Data from Phase 3 Study of DTX301 AAV8 Gene Therapy for the Treatment of Ornithine Transcarbamylase (OTC) Deficiency

PackGene's Advanced Capabilities in AAV Gene Therapy for Rare Diseases | PackGene Biotech