Articles Vol. 63 No. chuyên đề 1-BV Nhi Thái Bình (2022) 16/09/2022

FREQUENCY, THE CLINICAL AND BIOCHEMICAL FEATURES OF ACUTE DECOMPENSATED EPISODE WITH BETAKETOTHIOLASE DEFICIENCY IN VIETNAM NATIONAL CHILDREN'S HOSPITAL

Tran Thi Thu1,2
1 Thai Binh Pediatric Hospital
2 Bệnh viện Nhi Thái Bình
Corresponding author: bsthunhitb@gmail.com
DOI: 10.52163/yhc.v63iChuyên đề tháng 9.400
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Keywords
Beta-ketothiolase deficiency, C5: OH (tiglylcarnitine), C5:1(2-methyl- 3hydroxybutyrylcarnitine), 2MAA (2-methylacetoacetyl), 2M3HB (2-methyl-3-hydroxylbutyryl), TIG (tiglylcarnitine).
Abstract

Objective: Frequency, the clinical and biochemical features acute decompensated episode with betaketothiolase deficiency.
Subject and Method: A Descriptive study, 75 childrens beta-ketothiolase deficiency were diagnosed,
treated and monitored in the Vietnam National Children’s Hospital from January 2015 to June 2021.
Results: 92% of patients had acute decompensated episode, the age of onset was mainly less than
12 months, on average, one patient had 1.5 ± 1.27 acute attacks. Common clinical features are
respiratory tract inflammation such as fever (91.3%), cough (53.6%), vomiting (73.9%) and then
go into mental disorder (97,1%). Biochemical characteristics: 97,1% of patients had ketonuria
during acute decompensation episodes, the majority of patients with metabolic acidosis accounted
for 88,4%. 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 79,7%.
Conclusion: The frequency of acute decompensation accounted for 92%. 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.

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