doi:10.1016/j.atherosclerosis.2020.10.897engLamiquiz-Moneo, I.Mateo-Gallego, R.Fernández-Pardo, J.López-Ariño, C.Marco-Benedí, V.Bea, A.M.Ferraro, L.Jarauta, E.Cenarro, A.Civeira, F.Glycerol kinase deficiency in adults: Description of 4 novel cases, systematic review and development of a clinical diagnostic scoreART-2020-121242Background and aims: Glycerol kinase deficiency (GKD) is a rare genetic disorder characterized by hyperglycerolemia and glyceroluria, which could be misdiagnosed as a moderate to severe hypertriglyceridemia (HTG). We aimed to describe four novel cases of GKD, to complete a systematic review of all cases of isolated GKD published so far, and to develop a suspicion clinical diagnostic score for GKD. Methods: We reported four cases with suspicion of GKD and compared their phenotype with 584 males with triglycerides (TG) > 300 mg/dL, selected as control group (HTG non-GKD). The GK gene was sequenced in all cases. Lipoprotein particle concentrations were measured in all cases with GKD. The systematic review involved a PubMed, Cochrane and Scopus databases search to identify anthropometric and biochemical characteristics of all described cases with GKD. Results: The systematic review retrieved a total of 15 articles involving 39 subjects with GKD. GKD cases reported a history of high TG levels resistant to lipid-lowering therapy. Compared to GKD subjects (n = 43), HTG non-GKD subjects (n = 584) showed significantly higher BMI, total cholesterol, non-HDL cholesterol and gamma-glutamyltransferase, significantly lower HDL cholesterol and TG, and higher prevalence of diabetes. The proposed diagnostic score was significantly higher in GKD than in HTG non-GKD subjects. Conclusions: This is the first systematic review that compiles all GKD cases reported to date including 4 novel cases, and examine the differential GKD phenotype compared to other types of HTG. The proposed score would have a broad utility in clinical practice to avoid unwarranted lipid lowering treatment in GKD patients.2020http://zaguan.unizar.es/record/12183410.1016/j.atherosclerosis.2020.10.897http://zaguan.unizar.es/record/121834oai:zaguan.unizar.es:121834info:eu-repo/grantAgreement/ES/DGA/B14-7Rinfo:eu-repo/grantAgreement/EUR/ISCII-ERDF/A way to make Europeinfo:eu-repo/grantAgreement/ES/MINECO/CIBERCVinfo:eu-repo/grantAgreement/ES/MINECO/PI15-01983info:eu-repo/grantAgreement/ES/MINECO/PI18-01777Atherosclerosis 315 (2020), 24-32by-nc-ndhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/info:eu-repo/semantics/openAccess