RT Book, Section A1 Robak, Laurie A. A1 Sutton, V. Reid A2 Kline, Mark W. SR Print(0) ID 1182929615 T1 Sphingolipidoses T2 Rudolph's Pediatrics, 23e YR 2018 FD 2018 PB McGraw-Hill Education PP New York, NY SN 9781259588594 LK accesspediatrics.mhmedical.com/content.aspx?aid=1182929615 RD 2024/03/28 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.