Articles Vol. 66 No. CĐ2-NCKH 24/03/2025

16. CLINICAL AND LABORATORY CHARACTERISTICS OF BETA-KETOTHIOLASE DEFICIENCY IN A CASE REPORT AT THANH HOA PEDIATRIC HOSPITAL

Ha Hoang Minh1,2, Pham Thi Phuong1,2
1 Thanh Hoa Pediatric Hospital
2 Bệnh viện Nhi Thanh Hóa
Corresponding author: minhbvnhi@gmail.com
DOI: 10.52163/yhc.v66iCĐ2.2206
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Keywords
Beta-ketothiolase deficiency 2-metyl-3-hydroxybutyrat 2-metylaxetat
Abstract

Objectives: Describe clinical and laboratory characteristics of of beta-ketothiolase deficiency by a case reported at Thanh Hoa Children’s Hospital.

Method: Case study report.

Results: The disease was discovered in a female child, 34 months old, frequently being diagnosed infectious diseases in life. Clinical signs: infection syndrome and respiratory distress syndrome. Laboratory characterisitcs: white blood cells increase, CRP increase. Arterial blood gases analyze: axitoxis. The patients had 2 times had axitoxis condition but the causes were not clear. Urine test: acid 3-OH-butyric, acetoacetic, 2-methyl-3-OH-butyric, tiglylglycine, acid lactic, 3-OH-propionic, 2-OH-butyric positive.

Conclusions: The main clinical signs are: infection, respiratory distress, concurrent diseases, mal-nutrition. Laboratory test report axitoxis concurrently. Diagnosis by urine test.

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