121834 20230210153058.0 doi 10.1016/j.atherosclerosis.2020.10.897 sideral 121242 ART-2020-121242 eng Lamiquiz-Moneo, I. (orcid)0000-0002-9647-0108 Glycerol kinase deficiency in adults: Description of 4 novel cases, systematic review and development of a clinical diagnostic score 2020 Background 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. Access copy available to the general public Unrestricted info:eu-repo/grantAgreement/ES/DGA/B14-7R info:eu-repo/grantAgreement/EUR/ISCII-ERDF/A way to make Europe info:eu-repo/grantAgreement/ES/MINECO/CIBERCV info:eu-repo/grantAgreement/ES/MINECO/PI15-01983 info:eu-repo/grantAgreement/ES/MINECO/PI18-01777 info:eu-repo/semantics/openAccess by-nc-nd http://creativecommons.org/licenses/by-nc-nd/3.0/es/ 5.162 2020 PERIPHERAL VASCULAR DISEASE 14 / 65 = 0.215 2020 Q1 T1 CARDIAC & CARDIOVASCULAR SYSTEMS 43 / 141 = 0.305 2020 Q2 T1 1.554 2020 Cardiology and Cardiovascular Medicine 2020 Q1 info:eu-repo/semantics/article info:eu-repo/semantics/acceptedVersion Mateo-Gallego, R. Universidad de Zaragoza (orcid)0000-0001-6650-8294 Fernández-Pardo, J. López-Ariño, C. Marco-Benedí, V. Bea, A.M. Ferraro, L. Jarauta, E. Universidad de Zaragoza (orcid)0000-0001-9142-0737 Cenarro, A. Civeira, F. Universidad de Zaragoza (orcid)0000-0001-7043-0952 1006 255 Universidad de Zaragoza Dpto. Fisiatría y Enfermería Área Enfermería 1007 610 Universidad de Zaragoza Dpto. Medicina, Psiqu. y Derm. Area Medicina 315 (2020), 24-32 Atherosclerosis Atherosclerosis 0021-9150 4427820 http://zaguan.unizar.es/record/121834/files/texto_completo.pdf Postprint 2060526 http://zaguan.unizar.es/record/121834/files/texto_completo.jpg?subformat=icon icon Postprint oai:zaguan.unizar.es:121834 articulos driver 2023-02-10-09:03:46 ARTICLE