TẦN SUẤT, ĐẶC ĐIỂM LÂM SÀNG, CẬN LÂM SÀNG CỦA CƠN CẤP MẤT BÙ BETA-KETOTHIOLASE TẠI BỆNH VIỆN NHI TRUNG ƯƠNG

Abstract

Objective: Frequency, the clinical and biochemical features acute decompensated episode with betaketothiolase deficiency. Subject: A total of 23 children betaketothiolase deficiency were diagnosed, treated and monitored in the Vietnam National Children's Hospital from January 2015 to June 2021. Method: Descriptive study. Results: 95.3% of patients had acute decompensated episode, the age of onset was mainly less than 12 months, on average, one patient had 1.5 ± 0.78 acute attacks. Common clinical features are respiratory tract inflammation such as fever (80.6%), cough (72.2%), vomiting (69.4%) and then go into mental disorder (72,5%). Biochemical characteristics: 91.6% of patients had ketonuria during acute decompensation episodes, the majority of patients with metabolic acidosis accounted for 86.1%. Plasma acyl-carnitin profile revealed increased C5: 1 accounted for 82.6%, increased C5: OH accounted for 86.9%. Urinary organic acids profile revealed mainly increased by 2M3HB, accounting for 95%. Conclusion: The frequency of acute decompensation accounted for 95.3%. Most patients had symptoms of respiratory infection such as fever, cough, then coma, plasma acyl-carnitin profile revealed increased C5: 1 and C5: OH. Urinary organic acids profile revealed mainly increased by 2M3HB.