Glycerol kinase deficiency in adults: Description of 4 novel cases, systematic review and development of a clinical diagnostic score

Lamiquiz-Moneo, I. ; Mateo-Gallego, R. (Universidad de Zaragoza) ; Fernández-Pardo, J. ; López-Ariño, C. ; Marco-Benedí, V. ; Bea, A.M. ; Ferraro, L. ; Jarauta, E. (Universidad de Zaragoza) ; Cenarro, A. ; Civeira, F. (Universidad de Zaragoza)

Resumen: 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.

Idioma: Inglés

DOI: 10.1016/j.atherosclerosis.2020.10.897

Año: 2020

Publicado en: Atherosclerosis 315 (2020), 24-32
ISSN: 0021-9150

Factor impacto JCR: 5.162 (2020)

Categ. JCR: PERIPHERAL VASCULAR DISEASE rank: 14 / 65 = 0.215 (2020) - Q1 - T1
Categ. JCR: CARDIAC & CARDIOVASCULAR SYSTEMS rank: 43 / 141 = 0.305 (2020) - Q2 - T1

Factor impacto SCIMAGO: 1.554 - Cardiology and Cardiovascular Medicine (Q1)

Financiación: info:eu-repo/grantAgreement/ES/DGA/B14-7R
Financiación: info:eu-repo/grantAgreement/EUR/ISCII-ERDF/A way to make Europe
Financiación: info:eu-repo/grantAgreement/ES/MINECO/CIBERCV
Financiación: info:eu-repo/grantAgreement/ES/MINECO/PI15-01983
Financiación: info:eu-repo/grantAgreement/ES/MINECO/PI18-01777

Tipo y forma: Article (PostPrint)

Área (Departamento): Área Enfermería (Dpto. Fisiatría y Enfermería)
Área (Departamento): Area Medicina (Dpto. Medicina, Psiqu. y Derm.)