dc.contributor.author | Schmitt, Robert Niklas | |
dc.contributor.author | Roland, Dominique | |
dc.contributor.author | Rutsch, Frank | |
dc.contributor.author | Santer, Rene | |
dc.contributor.author | Schlune, Andrea | |
dc.contributor.author | Staufner, Christian | |
dc.contributor.author | Schwab, Karl Otfried | |
dc.contributor.author | Mitchell, Grant A. | |
dc.contributor.author | Sass, Joern Oliver | |
dc.contributor.author | Balci, Mehmet Cihan | |
dc.contributor.author | Goekcay, Gülden Fatma | |
dc.contributor.author | Gruenert, Sarah Catharina | |
dc.contributor.author | Schlatter, Sonja Marina | |
dc.contributor.author | Gemperle-Britschgi, Corinne | |
dc.contributor.author | Mrazova, Lenka | |
dc.contributor.author | Bischof, Felix | |
dc.contributor.author | ÇOKER, MAHMUT | |
dc.contributor.author | Das, Anibh M. | |
dc.contributor.author | Demirkol, Muebeccel | |
dc.contributor.author | de Vries, Maaike | |
dc.contributor.author | Haeberle, Johannes | |
dc.contributor.author | Ucar, Sema Kalkan | |
dc.contributor.author | Lotz-Havla, Amelie Sophia | |
dc.contributor.author | Luecke, Thomas | |
dc.date.accessioned | 2021-03-03T18:46:35Z | |
dc.date.available | 2021-03-03T18:46:35Z | |
dc.date.issued | 2017 | |
dc.identifier.citation | Gruenert S. C. , Schlatter S. M. , Schmitt R. N. , Gemperle-Britschgi C., Mrazova L., Balci M. C. , Bischof F., ÇOKER M., Das A. M. , Demirkol M., et al., "3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.", Molecular genetics and metabolism, cilt.121, sa.3, ss.206-215, 2017 | |
dc.identifier.issn | 1096-7192 | |
dc.identifier.other | av_50f3257d-097d-45f3-9f99-4274c519a5ad | |
dc.identifier.other | vv_1032021 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/57590 | |
dc.identifier.uri | https://doi.org/10.1016/j.ymgme.2017.05.014 | |
dc.description.abstract | 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is a rare inborn error of ketone body synthesis and leucine degradation, caused by mutations in the HMGCL gene. In order to obtain a comprehensive view on this disease, we have collected clinical and biochemical data as well as information on HMGCL mutations of 37 patients (35 families) from metabolic centers in Belgium, Germany, The Netherlands, Switzerland, and Turkey. All patients were symptomatic at some stage with 94% presenting with an acute metabolic decompensation. In 50% of the patients, the disorder manifested neonatally, mostly within the first days of life. Only 8% of patients presented after one year of age. Six patients died prior to data collection. Long-term neurological complications were common. Half of the patients had a normal cognitive development while the remainder showed psychomotor deficits. We identified seven novel HMGCL mutations. In agreement with previous reports, no clear genotype phenotype correlation could be found. This is the largest cohort of HMGCLD patients reported so far, demonstrating that HMGCLD is a potentially life-threatening disease with variable clinical outcome. Our findings suggest that the clinical course of HMGCLD cannot be predicted accurately from HMGCL genotype. The overall outcome in HMGCLD appears limited, thus rendering early diagnosis and strict avoidance of metabolic crises important. (C) 2017 Elsevier Inc. All rights reserved. | |
dc.language.iso | eng | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | ENDOKRİNOLOJİ VE METABOLİZMA | |
dc.subject | Klinik Tıp | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | TIP, ARAŞTIRMA VE DENEYSEL | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | İç Hastalıkları | |
dc.subject | Endokrinoloji ve Metabolizma Hastalıkları | |
dc.subject | Tıbbi Genetik | |
dc.subject | Tıbbi Ekoloji ve Hidroklimatoloji | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.title | 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. | |
dc.type | Makale | |
dc.relation.journal | Molecular genetics and metabolism | |
dc.contributor.department | İstanbul Üniversitesi , İstanbul Tıp Fakültesi , Dahili Tıp | |
dc.identifier.volume | 121 | |
dc.identifier.issue | 3 | |
dc.identifier.startpage | 206 | |
dc.identifier.endpage | 215 | |
dc.contributor.firstauthorID | 837487 | |