{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:59:55Z","timestamp":1787029195458,"version":"build-2736575974"},"reference-count":49,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,1,19]],"date-time":"2023-01-19T00:00:00Z","timestamp":1674086400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nutrients"],"abstract":"<jats:p>3-Hydroxy-3-Methylglutaryl-CoA Lyase (HMGCL) deficiency can be a very severe disorder that typically presents with acute metabolic decompensation with features of hypoketotic hypoglycemia, hyperammonemia, and metabolic acidosis. A retrospective chart and literature review of Australian patients over their lifespan, incorporating acute and long-term dietary management, was performed. Data from 10 patients contributed to this study. The index case of this disorder was lost to follow-up, but there is 100% survival in the remainder of the cases despite several having experienced life-threatening episodes. In the acute setting, five of nine patients have used 900 mg\/kg\/day of sodium D,L 3-hydroxybutyrate in combination with intravenous dextrose-containing fluids (delivering glucose above estimated basal utilization requirements). All patients have been on long-term protein restriction, and those diagnosed more recently have had additional fat restriction. Most patients take L-carnitine. Three children and none of the adults take nocturnal uncooked cornstarch. Of the cohort, there were two patients that presented atypically\u2014one with fulminant liver failure and the other with isolated developmental delay. Dietary management in patients with HMGCL deficiency is well tolerated, and rapid institution of acute supportive metabolic treatment is imperative to optimizing survival and improve outcomes in this disorder.<\/jats:p>","DOI":"10.3390\/nu15030531","type":"journal-article","created":{"date-parts":[[2023,1,19]],"date-time":"2023-01-19T07:42:27Z","timestamp":1674114147000},"page":"531","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Treatment of HMG-CoA Lyase Deficiency\u2014Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases"],"prefix":"10.3390","volume":"15","author":[{"given":"Susan","family":"Thompson","sequence":"first","affiliation":[{"name":"Sydney Children\u2019s Hospitals\u2019 Network, Westmead, NSW 2145, Australia"},{"name":"Faculty of Medicine and Health, Westmead Campus, University of Sydney, Westmead, NSW 2154, 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Genet. Metab."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1056\/NEJM197604292941823","article-title":"Letter: Patient with defect in leucine metabolism","volume":"294","author":"Faull","year":"1976","journal-title":"N. Engl. J. Med."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/0009-8981(76)90186-8","article-title":"3-hydroxy-3-methylglutaric aciduria: 3-Hydroxy-3-methylglutaryl-coenzyme a lyase levels in leucocytes","volume":"73","author":"Wysocki","year":"1976","journal-title":"Clin. Chim. Acta"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"4376","DOI":"10.1016\/S0021-9258(18)53620-6","article-title":"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","volume":"268","author":"Mitchell","year":"1993","journal-title":"J. Biol. Chem."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"206","DOI":"10.1016\/j.ymgme.2017.05.014","article-title":"3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients","volume":"121","author":"Schlatter","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"105","DOI":"10.1055\/s-0040-1714698","article-title":"Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center","volume":"10","author":"Holdar","year":"2021","journal-title":"J. Pediatr. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1186\/s13023-020-1319-7","article-title":"3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: One disease\u2014Many faces","volume":"15","author":"Sass","year":"2020","journal-title":"Orphanet. J. Rare Dis."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/S0140-6736(79)90394-5","article-title":"Hyperammonaemia and urinary organic acids","volume":"2","author":"Wysocki","year":"1979","journal-title":"Lancet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1007\/BF01799652","article-title":"3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: A review","volume":"9","author":"Wysocki","year":"1986","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1111\/j.1651-2227.1981.tb05555.x","article-title":"3-Hydroxy-3-methylglutaryl coenzyme A lyase deficiency. Follow-up of first described case","volume":"70","author":"Shilkin","year":"1981","journal-title":"Acta Paediatr. Scand."},{"key":"ref_11","first-page":"117","article-title":"3-hydroxy-3-methylglutaric, 3-methylglutaconic and 3-methylglutaric acids can be non-specific indicators of metabolic disease","volume":"7","author":"Hammond","year":"1984","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1007\/BF01800590","article-title":"3-Hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia","volume":"14","author":"Ozand","year":"1991","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1007\/BF00711810","article-title":"Fatal cardiomyopathy associated with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency","volume":"17","author":"Gibson","year":"1994","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1007\/BF01800058","article-title":"3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Report of five new patients","volume":"11","author":"Gibson","year":"1988","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_15","doi-asserted-by":"crossref","unstructured":"Al-Sayed, M., Imtiaz, F., Alsmadi, O.A., Rashed, M.S., and Meyer, B.F. (2006). Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population. BMC Med. Genet., 7.","DOI":"10.1186\/1471-2350-7-86"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1007\/s10545-007-0756-y","article-title":"Incidence of 3-hydroxy-3-methylglutaryl-coenzyme A lyase (HL) deficiency in Brazil, South America","volume":"31","author":"Vargas","year":"2008","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"334","DOI":"10.1016\/j.ymgme.2004.06.003","article-title":"The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency","volume":"82","author":"Cardoso","year":"2004","journal-title":"Mol. Genet. Metab."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1007\/BF02171564","article-title":"The contribution of protein catabolism to metabolic decompensation in 3-hydroxy-3-methylglutaric aciduria","volume":"149","author":"Thompson","year":"1990","journal-title":"Eur. J. Pediatr."},{"key":"ref_19","unstructured":"Dalkeith, T., Ellaway, C.J., Thompson, S., Dennison, B., Matar, W., Wilcken, B., and Bhattacharya, K. (2013, January 3\u20136). The use of 3-hydroxybutyrate in patients with fat oxidation disorders. Proceedings of the International Congress of Inborn Errors of Metabolism, Barcelona, Spain."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1186\/s13023-020-1316-x","article-title":"The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders","volume":"15","author":"Bhattacharya","year":"2020","journal-title":"Orphanet. J. Rare Dis."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1007\/BF00441397","article-title":"3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Review of 18 reported patients","volume":"148","author":"Gibson","year":"1988","journal-title":"Eur. J. Pediatr."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"833","DOI":"10.1023\/A:1005388205719","article-title":"The long-term evolution of a case of 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency associated with deafness and retinitis pigmentosa","volume":"20","author":"Jones","year":"1997","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1007\/BF00451909","article-title":"Dizygotic twins with 3-hydroxy-3-methylglutaric aciduria; unusual presentation, family studies and dietary management","volume":"144","author":"Stacey","year":"1985","journal-title":"Eur. J. Pediatr."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"419","DOI":"10.1007\/s10545-011-9389-2","article-title":"A series of pregnancies in women with inherited metabolic disease","volume":"35","author":"Langendonk","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1600","DOI":"10.1002\/ajmg.a.37620","article-title":"The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency","volume":"170","author":"Pipitone","year":"2016","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1016\/j.ymgme.2013.01.019","article-title":"Analysis of aberrant splicing and nonsense-mediated decay of the stop codon mutations c.109G>T and c.504_505delCT in 7 patients with HMG-CoA lyase deficiency","volume":"108","author":"Puisac","year":"2013","journal-title":"Mol. Genet. Metab."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"4777","DOI":"10.1007\/s11033-011-1270-8","article-title":"Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway","volume":"39","author":"Puisac","year":"2012","journal-title":"Mol. Biol. Rep."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1023\/A:1005642316174","article-title":"Cerebral infarction and pancreatitis: Possible complications of patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency","volume":"23","author":"Muroi","year":"2000","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s10545-010-9210-7","article-title":"The 3-methylglutaconic acidurias: What\u2019s new?","volume":"35","author":"Wortmann","year":"2012","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1007\/s10545-005-5518-0","article-title":"Cerebral ketone body metabolism","volume":"28","author":"Morris","year":"2005","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1016\/j.cca.2019.11.006","article-title":"3-Methylglutaric acid in energy metabolism","volume":"502","author":"Jones","year":"2020","journal-title":"Clin. Chim. Acta"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/j.ymgme.2017.03.006","article-title":"Coupled brain and urine spectroscopy\u2014In vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients","volume":"121","author":"Roland","year":"2017","journal-title":"Mol. Genet. Metab."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1016\/j.ymgme.2007.12.005","article-title":"Hereditary and acquired diseases of acyl-coenzyme A metabolism","volume":"94","author":"Mitchell","year":"2008","journal-title":"Mol. Genet. Metab."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1007\/s10545-014-9704-9","article-title":"Ketone body metabolism and its defects","volume":"37","author":"Fukao","year":"2014","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1002\/jmd2.12332","article-title":"3-Methylglutaconyl-CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis","volume":"63","author":"Hertzog","year":"2022","journal-title":"JIMD Rep."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"S45","DOI":"10.1016\/j.ymgme.2003.10.013","article-title":"Hyperinsulinism\/hyperammonemia syndrome: Insights into the regulatory role of glutamate dehydrogenase in ammonia metabolism","volume":"81","author":"Stanley","year":"2004","journal-title":"Mol. Genet. Metab."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1186\/s13023-018-0963-7","article-title":"Hyperammonaemia in classic organic acidaemias: A review of the literature and two case histories","volume":"13","author":"Chakrapani","year":"2018","journal-title":"Orphanet. J. Rare Dis."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"903","DOI":"10.1002\/jimd.12371","article-title":"New insights into carnitine-acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches","volume":"44","author":"Ryder","year":"2021","journal-title":"J. Inherit. Metab. Dis."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"598760","DOI":"10.3389\/fgene.2020.598760","article-title":"Physiological Perspectives on the Use of Triheptanoin as Anaplerotic Therapy for Long Chain Fatty Acid Oxidation Disorders","volume":"11","author":"Sklirou","year":"2020","journal-title":"Front. Genet."},{"key":"ref_40","first-page":"301","article-title":"Oral \u03b2-Hydroxybutyrate Supplementation in Two Patients with Hyperinsulinemic Hypoglycemia: Monitoring of \u03b2-Hydroxybutyrate Levels in Blood and Cerebrospinal Fluid, and in the Brain by In Vivo Magnetic Resonance Spectroscopy","volume":"52","author":"Plecko","year":"2002","journal-title":"Pediatr. Res."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1433","DOI":"10.1016\/S0140-6736(03)13105-4","article-title":"D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD)","volume":"361","author":"Jaeken","year":"2003","journal-title":"Lancet"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1038\/s41436-019-0739-z","article-title":"Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency","volume":"22","author":"Jager","year":"2020","journal-title":"Genet. Med."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1016\/S0021-9258(19)43092-5","article-title":"Ketone bodies as precursors of sterols and fatty acids in the developing rat","volume":"249","author":"Edmond","year":"1974","journal-title":"J. Biol. Chem."},{"key":"ref_44","first-page":"378","article-title":"MR imaging and proton spectroscopy in 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency","volume":"19","author":"Bakker","year":"1998","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1172\/JCI112299","article-title":"Ketone body transport in the human neonate and infant","volume":"77","author":"Bougneres","year":"1986","journal-title":"J. Clin. Investig."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1016","DOI":"10.2337\/diab.26.11.1016","article-title":"Measurement of \u201ctrue\u201d glucose production rates in infancy and childhood with 6,6-dideuteroglucose","volume":"26","author":"Bier","year":"1977","journal-title":"Diabetes"},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.pediatrneurol.2007.02.007","article-title":"3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white matter changes after treatment","volume":"37","author":"Zafeiriou","year":"2007","journal-title":"Pediatr. Neurol."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1186\/s13023-014-0130-8","article-title":"Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia","volume":"9","author":"Baumgartner","year":"2014","journal-title":"Orphanet. J. Rare Dis."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1007\/s10545-016-9999-9","article-title":"Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: Second revision","volume":"40","author":"Boy","year":"2017","journal-title":"J. Inherit. Metab. Dis."}],"container-title":["Nutrients"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2072-6643\/15\/3\/531\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:10:44Z","timestamp":1760119844000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2072-6643\/15\/3\/531"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,19]]},"references-count":49,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2023,2]]}},"alternative-id":["nu15030531"],"URL":"https:\/\/doi.org\/10.3390\/nu15030531","relation":{},"ISSN":["2072-6643"],"issn-type":[{"value":"2072-6643","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,19]]}}}