{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:38:38Z","timestamp":1787027918232,"version":"build-2736575974"},"reference-count":16,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2021,8,28]],"date-time":"2021-08-28T00:00:00Z","timestamp":1630108800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>3-Hydroxy-3-methylglutaryl-CoA (HMG-CoA) Lyase deficiency (HMGLD) (OMIM 246450) is an autosomal recessive genetic disorder caused by homozygous or compound heterozygous variants in the HMGCL gene located on 1p36.11. Clinically, this disorder is characterized by a life-threatening metabolic intoxication with a presentation including severe hypoglycemia without ketosis, metabolic acidosis, hyper-ammoniemia, hepatomegaly and a coma. HMGLD clinical onset is within the first few months of life after a symptomatic free period. In nonacute periods, the treatment is based on a protein- and fat-restricted diet. L-carnitine supplementation is recommended. A late onset presentation has been described in very few cases, and only two adult cases have been reported. The present work aims to describe an incidental discovery of an HMGLD case in a 54-year-old patient and reports a comprehensive review of clinical and biological features in adult patients to raise awareness about the late-onset presentation of this disease.<\/jats:p>","DOI":"10.3390\/diagnostics11091561","type":"journal-article","created":{"date-parts":[[2021,8,29]],"date-time":"2021-08-29T21:45:16Z","timestamp":1630273516000},"page":"1561","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency"],"prefix":"10.3390","volume":"11","author":[{"given":"Nassim","family":"Boutouchent","sequence":"first","affiliation":[{"name":"Normandie University, UNIROUEN, INSERM U1245, CHU Rouen, Department of Metabolic Biochemistry, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Bourilhon","sequence":"additional","affiliation":[{"name":"Rouen University Hospital, CHU de Rouen, Department of Neurology, 76000 Rouen, France"},{"name":"Department of Neurophysiology, Rouen University Hospital, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e9n\u00e9dicte","family":"Sudri\u00e9-Arnaud","sequence":"additional","affiliation":[{"name":"Normandie University, UNIROUEN, INSERM U1245, CHU Rouen, Department of Metabolic Biochemistry, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Bonnevalle","sequence":"additional","affiliation":[{"name":"Rouen University Hospital, CHU de Rouen, Department of Neurology, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie","family":"Guyant-Mar\u00e9chal","sequence":"additional","affiliation":[{"name":"Department of Neurophysiology, Rouen University Hospital, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3828-6847","authenticated-orcid":false,"given":"C\u00e9cile","family":"Acquaviva","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Inborn Errors of Metabolism, Center of Biology and Pathology Est, CHU Lyon, 69310 Bron, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lor\u00e9na","family":"Dujardin-Ippolito","sequence":"additional","affiliation":[{"name":"Normandie University, UNIROUEN, INSERM U1245, CHU Rouen, Department of Metabolic Biochemistry, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6184-7270","authenticated-orcid":false,"given":"Soumeya","family":"Bekri","sequence":"additional","affiliation":[{"name":"Normandie University, UNIROUEN, INSERM U1245, CHU Rouen, Department of Metabolic Biochemistry, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2324-1208","authenticated-orcid":false,"given":"Ivana","family":"Dabaj","sequence":"additional","affiliation":[{"name":"Normandie University, UNIROUEN, INSERM U1245, CHU Rouen, Department of Neonatal Pediatrics, Intensive Care and Neuropediatrics, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8901-2678","authenticated-orcid":false,"given":"Abdellah","family":"Tebani","sequence":"additional","affiliation":[{"name":"Normandie University, UNIROUEN, INSERM U1245, CHU Rouen, Department of Metabolic Biochemistry, 76000 Rouen, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,8,28]]},"reference":[{"key":"ref_1","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. 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