Year: 2025
Type: article
Study design: Observational Study
Abstract: Urea cycle disorders (UCD) are characterized by elevated blood ammonia levels due to deficiencies in enzymes essential for urea metabolism. Early diagnosis and treatment reduce mortality and sequelae. Objective: To describe the phenotypic characteristics and treatment outcomes of late-onset UCD from 2010 to September 2021. Results: 32 patients from 27 families with a median age of onset of 30 months old (range: 2-180 months). 33.3% of patients had a relevant family history. Reasons for medical consultation included vomiting, fatigue/poor appetite, and lethargy. Clinical presentation upon admission: 68.8% had impaired consciousness, 75% exhibited vomiting and poor appetite, 15% experienced seizures, and 6.2% presented with muscle tone disorders. Laboratory findings showed hyperammonemia in 93.8% of cases, with elevated lactate, increased liver enzymes, and decreased prothrombin time in 87.5% of patients. Treatment with ammonia-lowering medications, hemodialysis, and glucose infusion successfully saved 87.5% of patients. Conclusion: Blood ammonia testing is essential in patients with altered consciousness, elevated liver enzymes, and decreased prothrombin time. Glucose infusion, ammonia-lowering medications, and hemodialysis demonstrate favorable outcomes.
Source: Tạp chí Nghiên cứu Y học
Authors: Nguyen Ngoc Khanh, Can Thi Bich Ngoc
Language: English
Subfield: Clinical Biochemistry
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W4410900401