TY - CHAP M1 - Book, Section TI - Gangliosidosis (GM1) Type I A1 - Bissonnette, Bruno A1 - Luginbuehl, Igor A1 - Engelhardt, Thomas PY - 2019 T2 - Syndromes: Rapid Recognition and Perioperative Implications, 2e AB - Gangliosidosis is a subcategory of sphingolipidosis defined by the storage of two different types of lipid leading to the accumulation of lipids known as gangliosides. Lysosomal storage disease. There are two distinct genetic causes (Types I and II) of the disease. Both are autosomal recessive and affect males and females equally. Affected patients have clinical features resembling those of mucopolysaccharidoses Type I (Hurler Syndrome, Scheie Syndrome, and Hurler-Scheie Syndrome) and VI (Maroteaux-Lamy Syndrome), however without mucopolysacchariduria. Clinical features include joint stiffness, scoliosis, and skeletal dystrophy. Valvular heart diseases are present, of which aortic insufficiency is the most common. Obstructive sleep apnea is frequent, and 50% of reported cases have mild mental retardation. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/11/08 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1164070500 ER -