Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females.

Abstract

We describe 10 females with ornithine transcarbamylase (OTC) deficiency and liver dysfunction, revealing a unique pattern of hepatocyte injury in which initial hyperammonemia and coagulopathy is followed by a delayed peak in aminotransferase levels. None of the patients required urgent liver transplantation, though five eventually underwent transplant for recurrent metabolic crises. We intend that this novel observation will initiate further investigations into the pathophysiology of liver dysfunction in OTC-deficient patients, and ultimately lead to the development of therapies and prevent the need for liver transplant.

• Authors: Kathryn Clarkston, Joy Lee, Sarah Donoghue, Heidi Peters, Hernan Eiroa, Amit A Shah, Kathleen Loomes, Jessica Wen, Mark Oliver, Winita Hardikar, Carlos E Prada, Akihiro Asai
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 185 Issue 3 Pg. 909-915 (03 2021) ISSN: 1552-4833 [Electronic] United States
• PMID: 33369132 (Publication Type: Case Reports)
• Copyright: © 2020 Wiley Periodicals LLC.

Chemical References

• Biomarkers
• Aspartate Aminotransferases
• Alanine Transaminase

Topics

• Age of Onset
• Alanine Transaminase (blood)
• Amino Acid Substitution
• Aspartate Aminotransferases (blood)
• Biomarkers
• Child, Preschool
• Combined Modality Therapy
• Developmental Disabilities (genetics)
• Disease Progression
• Female
• Hemorrhagic Disorders (etiology)
• Humans
• Hyperammonemia (genetics)
• Infant
• International Normalized Ratio
• Liver Diseases (blood, etiology, surgery)
• Liver Transplantation
• Mutation, Missense
• Ornithine Carbamoyltransferase Deficiency Disease (blood, complications, diet therapy, surgery)
• Vomiting (genetics)