TY - CHAP M1 - Book, Section TI - Sphingolipidoses A1 - Robak, Laurie A. A1 - Sutton, V. Reid A2 - Kline, Mark W. PY - 2018 T2 - Rudolph's Pediatrics, 23e AB - The sphingolipidoses are a group of rare, multisystemic, clinically heterogeneous lysosomal storage disorders characterized by defects in the breakdown of complex lipids. Clinical findings may include hepatosplenomegaly, bone involvement, macular cherry red spots, interstitial lung disease, hematopoietic abnormalities, and neurologic disease. Because the affected enzymes are expressed in different tissues and the degree of enzymatic impairment may vary, clinical manifestations are quite variable. There is a wide range in age of onset from prenatal nonimmune hydrops to slowly progressive adult-onset disease. All but one of the sphingolipidoses are autosomal recessive conditions; Fabry disease is inherited as an X-linked disorder. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1182929615 ER -