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Published: 2025-03-24
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DOI: https://doi.org/10.52163/yhc.v66iCĐ2.2206
Issue
Vol. 66 No. CĐ2
Section
Articles
How to Cite
Minh, H. H., & Phương, P. T. (2025). 16. CLINICAL AND LABORATORY CHARACTERISTICS OF BETA-KETOTHIOLASE DEFICIENCY IN A CASE REPORT AT THANH HOA PEDIATRIC HOSPITAL. Vietnam Journal of Community Medicine, 66(CĐ2). https://doi.org/10.52163/yhc.v66iCĐ2.2206

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

Ha Hoang Minh1, Pham Thi Phuong1
1 Thanh Hoa Pediatric Hospital

Main Article Content

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.

Article Details

Keywords

Beta-ketothiolase deficiency, 2-metyl-3-hydroxybutyrat, 2-metylaxetat

References

[1] Daum R.S, Lamm P.H, Mamer O.A et al, A “new” disorder of isoleucine catabolism, Lancet, Dec 11 1971, 2 (7737): 1289-90, doi:10.1016/ s0140-6736(71)90605-2.
[2] Abdelkreem E et al, Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency, JIMD Rep., 2017, 35, p. 59-65.
[3] Alijanpour M et al, Beta-ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency, JIMD Rep., 2019, 46 (1), p. 23-27.
[4] Fukao T et al, Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A > C (H144P) in ACAT1: Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry, JIMD Rep., 2012, 3, p. 107-15.
[5] Grünert S.C, Sass J.O, 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways, Orphanet J Rare Dis., 2020, 15 (1), p. 106.
[6] Law C.Y et al, NMR-based urinalysis for beta-ketothiolase deficiency, Clin Chim Acta, 2015, 438, pp. 222-5.
[7] Lin Y et al, C4OH is a potential newborn screening marker-a multicenter retrospective study of patients with beta-ketothiolase deficiency in China, Orphanet J Rare Dis., 2021, 16 (1), p. 224.
[8] Mao S et al, Ketoacidotic crisis after vaccination in a girl with beta-ketothiolase deficiency: a case report, Transl Pediatr., 2021, 10 (2), p. 459-463.
[9] Nguyen K.N et al, Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years’ experience of a medical center in northern Vietnam, J. Inherit Metab Dis., 2017, 40 (3), p. 395-401.
[10] Nguyễn Ngọc Khánh và cộng sự, Bệnh thiếu enzym beta-ketothiolase (T2) tại Bệnh viện Nhi Trung ương: Kiểu hình, kiểu gen và kết quả điều trị, Tạp chí Y Dược học quân sự, 2015, 2, tr. 90-95.