Article
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
Molecular genetics and metabolism - 1 Jul 2017
Grünert Sarah Catharina, Schlatter Sonja Marina, Schmitt Robert Niklas, Gemperle-Britschgi Corinne, Mrázová Lenka, Balcı Mehmet Cihan, Bischof Felix, Çoker Mahmut, Das Anibh M, Demirkol Mübeccel, de Vries Maaike, Gökçay Gülden, Häberle Johannes, Uçar Sema Kalkan, Lotz-Havla Amelie Sophia, Lücke Thomas, Roland Dominique, Rutsch Frank, Santer René, Schlune Andrea, Staufner Christian, Schwab Karl Otfried, Mitchell Grant A, Sass Jörn Oliver
Abstract excerpt
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,...
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