Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females.
Am J Med Genet A
; 185(3): 909-915, 2021 03.
Article
in En
| MEDLINE
| ID: mdl-33369132
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ornithine Carbamoyltransferase Deficiency Disease
/
Alanine Transaminase
/
Liver Diseases
Type of study:
Etiology_studies
Limits:
Child, preschool
/
Female
/
Humans
/
Infant
Language:
En
Journal:
Am J Med Genet A
Journal subject:
GENETICA MEDICA
Year:
2021
Document type:
Article
Affiliation country:
United States