We thank the patients and family members who participated in this study.
Author contributions
HTNH: Formal analysis, Writing—original draft, Writing—review & editing. KLN: Methodology, Writing—original draft. PNV: Resources, Writing—original draft, Writing—review & editing. HHN: Conceptualization, Supervision, Writing—review & editing. All authors have read and agreed to the published version of the manuscript.
Conflicts of interest
The authors declare no conflicts of interest.
Ethical approval
The study was approved by the Institutional Review Board of the Institute of Genome Research (IGR IRB), Vietnam Academy of Science and Technology (No: 4-2024/NCHG-HĐĐĐ).
Consent to participate
Informed consent to participate in the study was obtained from the patient’s parents.
Consent to publication
Informed consent to publication in the study was obtained from the patient’s parents.
Availability of data and materials
The datasets generated for this study can be found in the Human Gene Mutation Database (HGMD), Leiden Open Variation Database (LOVD) v.3.0, and Protein Data Bank (PDB id: 2CW6). All datasets analyzed for this study are included in the manuscript and the supplementary files.
Open Exploration maintains a neutral stance on jurisdictional claims in published institutional affiliations and maps. All opinions expressed in this article are the personal views of the author(s) and do not represent the stance of the editorial team or the publisher.
References
Murphey K, Krishna I, Li H. Inborn errors of metabolism and pregnancy.Am J Obstet Gynecol MFM. 2024;6:101399. [DOI] [PubMed]
Conboy E, Vairo F, Schultz M, Agre K, Ridsdale R, Deyle D, et al. Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features.JIMD Rep. 2018;40:63–9. [DOI] [PubMed] [PMC]
Václavík J, Mádrová L, Kouřil Š, de Sousa J, Brumarová R, Janečková H, et al. A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.JIMD Rep. 2020;54:79–86. [DOI] [PubMed] [PMC]
Duran M, Ketting D, Wadman SK, Jakobs C, Schutgens RB, Veder HA. Organic acid excretion in a patient with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency: facts and artefacts.Clin Chim Acta. 1978;90:187–93. [DOI] [PubMed]
Mitchell GA, Robert MF, Hruz PW, Wang S, Fontaine G, Behnke CE, et al. 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency.J Biol Chem. 1993;268:4376–81. [PubMed]
Oshima Y, Yamamoto T, Ishikawa T, Mishima H, Matsusue A, Umehara T, et al. Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death.J Hum Genet. 2017;62:989–95. [DOI] [PubMed]
Ng PC, Henikoff S. SIFT: Predicting amino acid changes that affect protein function.Nucleic Acids Res. 2003;31:3812–4. [DOI] [PubMed] [PMC]
Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2.Curr Protoc Hum Genet. 2013;Chapter 7:Unit7.20. [DOI] [PubMed] [PMC]
Choi Y, Chan AP. PROVEAN web server: a tool to predict the functional effect of amino acid substitutions and indels.Bioinformatics. 2015;31:2745–7. [DOI] [PubMed] [PMC]
Blanchette M, Kent WJ, Riemer C, Elnitski L, Smit AFA, Roskin KM, et al. Aligning multiple genomic sequences with the threaded blockset aligner.Genome Res. 2004;14:708–15. [DOI] [PubMed] [PMC]
Pié J, López-Viñas E, Puisac B, Menao S, Pié A, Casale C, et al. Molecular genetics of HMG-CoA lyase deficiency.Mol Genet Metab. 2007;92:198–209. [DOI] [PubMed]
Grünert SC, Sass JO. 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.Orphanet J Rare Dis. 2020;15:48. [DOI] [PubMed] [PMC]
Fu Z, Runquist JA, Montgomery C, Miziorko HM, Kim JJP. Functional insights into human HMG-CoA lyase from structures of Acyl-CoA-containing ternary complexes.J Biol Chem. 2010;285:26341–9. [DOI] [PubMed] [PMC]
Mir C, Lopez-Viñas E, Aledo R, Puisac B, Rizzo C, Dionisi-Vici C, et al. A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase.J Inherit Metab Dis. 2006;29:64–70. [DOI] [PubMed]
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al.; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.Genet Med. 2015;17:405–24. [DOI] [PubMed] [PMC]
Zhao B, Chen P, She X, Chen X, Ni Z, Zhou D, et al. China nationwide landscape of 16 types inherited metabolic disorders: a retrospective analysis on 372,255 clinical cases.Orphanet J Rare Dis. 2023;18:228. [DOI] [PubMed] [PMC]
Muroi J, Yorifuji T, Uematsu A, Shigematsu Y, Onigata K, Maruyama H, et al. Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency.Hum Genet. 2000;107:320–6. [DOI] [PubMed]
Lin WD, Wang CH, Lai CC, Tsai Y, Wu JY, Chen CP, et al. Molecular analysis of Taiwanese patients with 3-hydroxy-3-methylglutaryl CoA lyase deficiency.Clin Chim Acta. 2009;401:33–6. [DOI] [PubMed]
Tadaka S, Katsuoka F, Ueki M, Kojima K, Makino S, Saito S, et al. 3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosome.Hum Genome Var. 2019;6:28. [DOI] [PubMed] [PMC]
Thompson S, Hertzog A, Selvanathan A, Batten K, Lewis K, Nisbet J, et al. Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases.Nutrients. 2023;15:531. [DOI] [PubMed] [PMC]
