WebSphingolipidosis-. an inherited metabolic disorder that affects the metabolism of the spinhgolipids. representative examples include gaucher disease, tay-sachs disease, and niemann-pick disease. Specific Coding for Other sphingolipidosis. Non-specific codes like E75.2 require more digits to indicate the appropriate level of specificity. WebE7529 - Other sphingolipidosis - as a primary diagnosis code E7529 - Other sphingolipidosis - as a primary or secondary diagnosis code; OUTCOMES: Avg. LOS: 7.49: Readmission Rate (%) 22.99: Unplanned Readmission Rate (%) NA: Mortality Rate (%) SNF Discharge Rate (%) Home Discharge Rate (%) PAYMENTS AND CHARGES: Total Medicare Payments: …
Frontiers The Association Between Lysosomal Storage Disorder Genes …
WebMay 1, 2014 · Deficiency of a degrading enzyme or lipid binding protein causes a sphingolipidosis. Abstract Endocytosed (glyco)sphingolipids are degraded, together with … Other names: Sphingolipidosis: Diagram showing some of the sphingolipidoses: ... Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult … See more Sphingolipidoses are a class of lipid storage disorders or degenerative storage disorders caused by deficiency of an enzyme that is required for the catabolism of lipids that contain ceramide, also relating to See more • Gangliosides: Gangliosidosis • Glycolipids • Glucocerebrosides See more • Lipid storage disorder See more • Sphingolipidoses at the U.S. National Library of Medicine Medical Subject Headings (MeSH) See more friendly nightmares
Sphingolipidoses - an overview ScienceDirect Topics
WebHowever, the activation of macrophages and the secretion of chitotriosidase are also observed in other sphingolipidoses [3,4,5]. Deficiency of lysosomal GBA activity leads to Gaucher disease (GD), an autosomal recessive disorder, the most common sphingolipidosis in the Caucasian population. Three main clinical types of GD are distinguished ... WebDisease Ontology: 11 A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has material basis in homozygous or coumpound heterozygous mutation in PSAP on 10q22.1.. MalaCards based summary: Combined Saposin … Websphingolipidosis: [ sfing″go-lip″ĭ-do´sis ] a general designation applied to diseases characterized by abnormal storage of sphingolipids , such as gaucher's disease , niemann-pick disease , hurler's syndrome , and tay-sachs disease ; all are associated with mental retardation and premature death. fawn spotted tabby