In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages

• Published in: Orphanet journal of rare diseases Vol. 5; no. 1; p. 32
• Main Authors: Barilli, Amelia, Rotoli, Bianca Maria, Visigalli, Rossana, Bussolati, Ovidio, Gazzola, Gian C, Kadija, Zamir, Rodi, Giuseppe, Mariani, Francesca, Ruzza, Maria Lorena, Luisetti, Maurizio, Dall'Asta, Valeria
• Format: Journal Article
• Language: English
• Published: England BioMed Central 26.11.2010; BioMed Central Ltd; BMC
• Subjects: Adult; Amino Acid Metabolism, Inborn Errors - complications; Blood; Cell Differentiation; Cells, Cultured; Disease; Fusion Regulatory Protein 1, Light Chains - genetics; Fusion Regulatory Protein 1, Light Chains - metabolism; Genes; Granulocyte-Macrophage Colony-Stimulating Factor - immunology; Granulocyte-Macrophage Colony-Stimulating Factor - metabolism; Granulocyte-Macrophage Colony-Stimulating Factor - therapeutic use; Humans; Lungs; Lysine - metabolism; Macrophages, Alveolar - cytology; Macrophages, Alveolar - immunology; Macrophages, Alveolar - metabolism; Male; Medical research; Metabolic disorders; Monocytes - immunology; Monocytes - metabolism; Mutation; Pathogenesis; Pulmonary Alveolar Proteinosis - immunology; Pulmonary Alveolar Proteinosis - physiopathology; Pulmonary Alveolar Proteinosis - therapy; Rare diseases; Young Adult

In the recessive aminoaciduria Lysinuric Protein Intolerance (LPI), mutations of SLC7A7/y+LAT1 impair system y+L transport activity for cationic amino acids. A severe complication of LPI is a form of Pulmonary Alveolar Proteinosis (PAP), in which alveolar spaces are filled with lipoproteinaceous mat...