000121834 001__ 121834
000121834 005__ 20230210153058.0
000121834 0247_ $$2doi$$a10.1016/j.atherosclerosis.2020.10.897
000121834 0248_ $$2sideral$$a121242
000121834 037__ $$aART-2020-121242
000121834 041__ $$aeng
000121834 100__ $$0(orcid)0000-0002-9647-0108$$aLamiquiz-Moneo, I.
000121834 245__ $$aGlycerol kinase deficiency in adults: Description of 4 novel cases, systematic review and development of a clinical diagnostic score
000121834 260__ $$c2020
000121834 5060_ $$aAccess copy available to the general public$$fUnrestricted
000121834 5203_ $$aBackground and aims: Glycerol kinase deficiency (GKD) is a rare genetic disorder characterized by hyperglycerolemia and glyceroluria, which could be misdiagnosed as a moderate to severe hypertriglyceridemia (HTG). We aimed to describe four novel cases of GKD, to complete a systematic review of all cases of isolated GKD published so far, and to develop a suspicion clinical diagnostic score for GKD.
Methods: We reported four cases with suspicion of GKD and compared their phenotype with 584 males with triglycerides (TG) > 300 mg/dL, selected as control group (HTG non-GKD). The GK gene was sequenced in all cases. Lipoprotein particle concentrations were measured in all cases with GKD. The systematic review involved a PubMed, Cochrane and Scopus databases search to identify anthropometric and biochemical characteristics of all described cases with GKD.
Results: The systematic review retrieved a total of 15 articles involving 39 subjects with GKD. GKD cases reported a history of high TG levels resistant to lipid-lowering therapy. Compared to GKD subjects (n = 43), HTG non-GKD subjects (n = 584) showed significantly higher BMI, total cholesterol, non-HDL cholesterol and gamma-glutamyltransferase, significantly lower HDL cholesterol and TG, and higher prevalence of diabetes. The proposed diagnostic score was significantly higher in GKD than in HTG non-GKD subjects.
Conclusions: This is the first systematic review that compiles all GKD cases reported to date including 4 novel cases, and examine the differential GKD phenotype compared to other types of HTG. The proposed score would have a broad utility in clinical practice to avoid unwarranted lipid lowering treatment in GKD patients.
000121834 536__ $$9info:eu-repo/grantAgreement/ES/DGA/B14-7R$$9info:eu-repo/grantAgreement/EUR/ISCII-ERDF/A way to make Europe$$9info:eu-repo/grantAgreement/ES/MINECO/CIBERCV$$9info:eu-repo/grantAgreement/ES/MINECO/PI15-01983$$9info:eu-repo/grantAgreement/ES/MINECO/PI18-01777
000121834 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc-nd$$uhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/
000121834 590__ $$a5.162$$b2020
000121834 591__ $$aPERIPHERAL VASCULAR DISEASE$$b14 / 65 = 0.215$$c2020$$dQ1$$eT1
000121834 591__ $$aCARDIAC & CARDIOVASCULAR SYSTEMS$$b43 / 141 = 0.305$$c2020$$dQ2$$eT1
000121834 592__ $$a1.554$$b2020
000121834 593__ $$aCardiology and Cardiovascular Medicine$$c2020$$dQ1
000121834 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/acceptedVersion
000121834 700__ $$0(orcid)0000-0001-6650-8294$$aMateo-Gallego, R.$$uUniversidad de Zaragoza
000121834 700__ $$aFernández-Pardo, J.
000121834 700__ $$aLópez-Ariño, C.
000121834 700__ $$aMarco-Benedí, V.
000121834 700__ $$aBea, A.M.
000121834 700__ $$aFerraro, L.
000121834 700__ $$0(orcid)0000-0001-9142-0737$$aJarauta, E.$$uUniversidad de Zaragoza
000121834 700__ $$aCenarro, A.
000121834 700__ $$0(orcid)0000-0001-7043-0952$$aCiveira, F.$$uUniversidad de Zaragoza
000121834 7102_ $$11006$$2255$$aUniversidad de Zaragoza$$bDpto. Fisiatría y Enfermería$$cÁrea Enfermería
000121834 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000121834 773__ $$g315 (2020), 24-32$$pAtherosclerosis$$tAtherosclerosis$$x0021-9150
000121834 8564_ $$s4427820$$uhttps://zaguan.unizar.es/record/121834/files/texto_completo.pdf$$yPostprint
000121834 8564_ $$s2060526$$uhttps://zaguan.unizar.es/record/121834/files/texto_completo.jpg?subformat=icon$$xicon$$yPostprint
000121834 909CO $$ooai:zaguan.unizar.es:121834$$particulos$$pdriver
000121834 951__ $$a2023-02-10-09:03:46
000121834 980__ $$aARTICLE