Article
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
Journal of inherited metabolic disease - 1 Jul 2021
Vogt Guido, El Choubassi Naji, Herczegfalvi Ágnes, Kölbel Heike, Lekaj Anja, Schara Ulrike, Holtgrewe Manuel, Krause Sabine, Horvath Rita, Schuelke Markus, Hübner Christoph, Mundlos Stefan, Roos Andreas, Lochmüller Hanns, Karcagi Veronika, Kornak Uwe, Fischer-Zirnsak Björn
Abstract excerpt
Several inborn errors of metabolism show cutis laxa as a highly recognizable feature. One group of these metabolic cutis laxa conditions is autosomal recessive cutis laxa type 2 caused by defects in v-ATPase components or the mitochondrial proline cycle. Besides cutis laxa, muscular hypotonia and cardiac abnormalities are hallmarks of autosomal recessive cutis laxa type 2D (ARCL2D) due to pathogenic variants in...
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