Online-Ressource | |
Verfasst von: | Grünert, Sarah [VerfasserIn] |
Staufner, Christian [VerfasserIn] | |
Titel: | 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency |
Titelzusatz: | clinical presentation and outcome in a series of 37 patients |
Verf.angabe: | Sarah Catharina Grünert, Sonja Marina Schlatter, Robert Niklas Schmitt, Corinne Gemperle-Britschgi, Lenka Mrázová, Mehmet Cihan Balcı, Felix Bischof, Mahmut Çoker, Anibh M. Das, Mübeccel Demirkol, Maaike de Vries, Gülden Gökçay, Johannes Häberle, Sema Kalkan Uçar, Amelie Sophia Lotz-Havla, Thomas Lücke, Dominique Roland, Frank Rutsch, René Santer, Andrea Schlune, Christian Staufner, Karl Otfried Schwab, Grant A. Mitchell, Jörn Oliver Sass |
Umfang: | 10 S. |
Fussnoten: | Available online 22 May 2017 ; Gesehen am 22.06.2018 |
Titel Quelle: | Enthalten in: Molecular genetics and metabolism |
Jahr Quelle: | 2017 |
Band/Heft Quelle: | 121(2017), 3, S. 206-215 |
ISSN Quelle: | 1096-7206 |
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. |
DOI: | doi:10.1016/j.ymgme.2017.05.014 |
URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt. Verlag: http://dx.doi.org/10.1016/j.ymgme.2017.05.014 |
Verlag: http://www.sciencedirect.com/science/article/pii/S1096719217302822 | |
DOI: https://doi.org/10.1016/j.ymgme.2017.05.014 | |
Datenträger: | Online-Ressource |
Sprache: | eng |
K10plus-PPN: | 1576783332 |
Verknüpfungen: | → Zeitschrift |