Abdellah Tebani, Bénédicte Sudrié-Arnaud, Hela Boudabous, Anais Brassier, Rodolphe Anty, Sarah Snanoudj, Armand Abergel, Marie-Thérèse Abi Warde, Edouard Bardou-Jacquet, Reda Belbouab, Eloi Blanchet, Corinne Borderon, Jean-Pierre Bronowicki, Bertrand Cariou, Claire Carette, Myriam Dabbas, Hélène Dranguet, Victor de Ledinghen, Jean Ferrières, Maeva Guillaume, Michel Krempf, Florence Lacaille, Dominique Larrey, Vincent Leroy, Marietta Musikas, Eric Nguyen-Khac, Denis Ouzan, Jean-Marc Perarnau, Carine Pilon, Vlad Ratzlu, Alice Thebaut, Thierry Thevenot, Isabelle Tragin, Valérie Triolo, Bruno Vergès, Sabrina Vergnaud, Soumeya Bekri
BACKGROUND: Lysosomal acid lipase deficiency (LALD, OMIM#278000) is a rare lysosomal disorder with an autosomal recessive inheritance. The main clinical manifestations are related to a progressive accumulation of cholesteryl esters, triglycerides or both within the lysosome in different organs such as the liver, spleen, and cardiovascular system. A wide range of clinical severity is associated with LALD including a severe very rare antenatal/neonatal/infantile phenotype named Wolman disease and a late-onset form named cholesteryl ester storage disease (CESD)...
August 2021: Clinica Chimica Acta; International Journal of Clinical Chemistry