Research & Literature

Inborn errors of ketone body utilization.

Hori T, Yamaguchi S, Shinkaku H, et al.

Pediatrics international : official journal of the Japan Pediatric Society 2015; (57(1)):41-8 doi:10.1111/ped.12585.

Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study.

Hassan FA, El-Mougy F, Sharaf SA, et al.

Journal of medical screening 2016; (23(3)):124-9 doi:10.1177/0969141315618229.

Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency.

Abdelkreem E, Akella RRD, Dave U, et al.

JIMD reports 2017; (35()):59-65 doi:10.1007/8904_2016_26.

Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam.

Nguyen KN, Abdelkreem E, Colombo R, et al.

Journal of inherited metabolic disease 2017; (40(3)):395-401 doi:10.1007/s10545-017-0026-6.

Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.

Paquay S, Bourillon A, Pichard S, et al.

Journal of inherited metabolic disease 2017; (40(3)):415-422 doi:10.1007/s10545-017-0021-y.

Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.

Grünert SC, Schmitt RN, Schlatter SM, et al.

Molecular genetics and metabolism 2017; (122(1-2)):67-75 doi:10.1016/j.ymgme.2017.06.012.

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.

Wojcik MH, Wierenga KJ, Rodan LH, et al.

JIMD reports 2018; (39()):45-54 doi:10.1007/8904_2017_45.

Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene.

Su L, Li X, Lin R, et al.

Metabolic brain disease 2017; (32(6)):2063-2071 doi:10.1007/s11011-017-0097-y.

Skin Lesions Associated with Nutritional Management of Maple Syrup Urine Disease.

Uaariyapanichkul J, Saengpanit P, Damrongphol P, et al.

Case reports in dermatological medicine 2017; (2017()):3905658 doi:10.1155/2017/3905658.

Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis.

Kılıç-Yıldırım G, Durmuş-Aydoğdu S, Ceylaner S, Sass JO

The Turkish journal of pediatrics 2017; (59(4)):471-474.

A Novel Mutation of Beta-ketothiolase Deficiency: The First Report from Iran and Review of Literature.

Vakili R, Hashemian S

Iranian journal of child neurology 2018; (12(3)):113-121.

Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.

Fukao T, Sasai H, Aoyama Y, et al.

Journal of human genetics 2019; (64(2)):99-111 doi:10.1038/s10038-018-0524-x.

[Retrospective analysis on clinical data and genetic variations of patients with beta-ketothiolase deficiency].

Xu F, Han L, Qiu W, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019; (36(3)):199-202 doi:10.3760/cma.j.issn.1003-9406.2019.03.002.

Beta-ketothiolase deficiency in a Malaysian infant.

Rajan D, Constance LSL, Brandon P

The Medical journal of Malaysia 2019; (74(2)):174-175.

The recent insights into the function of ACAT1: A possible anti-cancer therapeutic target.

Goudarzi A

Life sciences 2019; (232()):116592 doi:10.1016/j.lfs.2019.116592.

Beta-ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency.

Alijanpour M, Sasai H, Abdelkreem E, et al.

JIMD reports 2019; (46(1)):23-27 doi:10.1002/jmd2.12022.

Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Abdelkreem E, Harijan RK, Yamaguchi S, et al.

Human mutation 2019; (40(10)):1641-1663 doi:10.1002/humu.23831.

A Novel Mutation in ACAT1 Causing Beta-Ketothiolase Deficiency in a 4-Year-Old Sri Lankan Boy with Metabolic Ketoacidosis.

Manawadu TV, Jasinge E, Fernando M, et al.

Indian journal of clinical biochemistry : IJCB 2020; (35(2)):251-254 doi:10.1007/s12291-019-00851-y.

2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways.

Grünert SC, Sass JO

Orphanet journal of rare diseases 2020; (15(1)):106 doi:10.1186/s13023-020-01357-0.

Ketoacidotic crisis after vaccination in a girl with beta-ketothiolase deficiency: a case report.

Mao S, Yang L, Yin X, et al.

Translational pediatrics 2021; (10(2)):459-463 doi:10.21037/tp-20-265.

C4OH is a potential newborn screening marker-a multicenter retrospective study of patients with beta-ketothiolase deficiency in China.

Lin Y, Yang Z, Yang C, et al.

Orphanet journal of rare diseases 2021; (16(1)):224 doi:10.1186/s13023-021-01859-5.

Emergence of lesions outside of the basal ganglia and irreversible damage to the basal ganglia with severe β-ketothiolase deficiency: A case report.

Guo J, Ren D, Guo ZJ, et al.

World journal of clinical cases 2021; (9(30)):9276-9284 doi:10.12998/wjcc.v9.i30.9276.

Unexplained Tachypneoa and Severe Metabolic Acidosis in a Three-Month-Old Child: A Rare Presentation of Beta-Ketothiolose Deficiency.

Thadchanamoorthy V, Dayasiri K

Cureus 2022; (14(2)):e21934 doi:10.7759/cureus.21934.

Identification of two novel ACAT1 variant associated with beta-ketothiolase deficiency in a 9-month-old boy.

Wang Y, Gao Q, Wang W, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2022; (35(9)):1194-1200 doi:10.1515/jpem-2022-0158.

Melatonin improves behavioral parameters and oxidative stress in zebrafish submitted to a leucine-induced MSUD protocol.

Duarte MB, Medeiros BZ, da Silva Lemos I, et al.

Metabolic brain disease 2023; (38(6)):2105-2114 doi:10.1007/s11011-023-01220-8.

[Clinical phenotypic and genotypic analysis of 5 pediatric patients with β-ketothiolase deficiency].

Zhang J, Yu CW, Wang M, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2024; (62(1)):66-70 doi:10.3760/cma.j.cn112140-20230803-00071.

Elevated C5-hydroxy acylcarnitine in an infant girl as a result of holocarboxylase synthetase deficiency.

Nelson AT, Jones PM, Cao J

Clinica chimica acta; international journal of clinical chemistry 2024; (560()):119747 doi:10.1016/j.cca.2024.119747.

Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a review of the literature.

Zhen XM, Twigg SM, Wu T, et al.

Clinical diabetes and endocrinology 2024; (10(1)):17 doi:10.1186/s40842-024-00174-9.

Functional Analysis of Novel Variants Located in the Tetramerization Loop of ACAT1.

Xiao Y, Sasai H, Matsumoto H, et al.

The Tohoku journal of experimental medicine 2025; (267(1)):11-19 doi:10.1620/tjem.2024.J132.

C4OH-carnitine: an important marker of ketosis in patients with and without inborn errors of metabolism.

Duque Lasio ML, Zaitsev M, Hobert JA, et al.

Molecular genetics and metabolism 2025; (145(4)):109160 doi:10.1016/j.ymgme.2025.109160.

Molecular characterization, clinical phenotype, and neurological outcome of twelve Palestinian children with beta-ketothiolase deficiency: report of two novel variants in the ACAT1 gene.

Dweikat IM, Abdul-Hafez HA, Zayed A, et al.

BMC medical genomics 2025; (18(1)):106 doi:10.1186/s12920-025-02175-8.

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation.

Vasco A, Berardo C, Lucchi S, et al.

International journal of neonatal screening 2025; (11(3)) doi:10.3390/ijns11030076.

Beta-ketothiolase deficiency with neurological impairment: a case report.

Al-Sawadi I, Hussain B

Annals of medicine and surgery (2012) 2025; (87(11)):7739-7744 doi:10.1097/MS9.0000000000003958.

Analysis of the clinical phenotype and genotype features of 5 cases of beta-ketothiolase deficiency.

Jin JL, Wu D, Ding Y

BMC pediatrics 2026; (26(1)).

The significance of the ketolytic gene OXCT1 in metabolism, intracellular signaling and disease development.

Górecka K, Soboska K, Pacholczyk M, et al.

Cellular and molecular life sciences : CMLS 2026; (83(1)).

Beta-ketothiolase deficiency with progressive basal ganglia and extra basal ganglia involvement: CT-MRI correlation in a pediatric metabolic encephalopathy: A case report.

Gebre B, Gereziher Y, Gebrewahd D, Alcober C

Radiology case reports 2026; (21(10)):4705-4714 doi:10.1016/j.radcr.2026.06.125.

Beta-ketothiolase deficiency: two novel ACAT1 variants and a retrospective study of 76 cases in China.

Deng X, Li X, Liu H, et al.

Molecular genetics and metabolism 2026; (149(1-2)):110242 doi:10.1016/j.ymgme.2026.110242.

Longitudinal biochemical profiles in beta-ketothiolase deficiency: Phase-dependent diagnostic challenges and metabolic variability.

Ergun NÜ, Coşkun N, Aslantaş M, Köse MAK

Molecular genetics and metabolism 2026; (149(1-2)):110244 doi:10.1016/j.ymgme.2026.110244.