Preferred Label : Deoxysphingolipid;
NCIt synonyms : dSL; Deoxy-Sphingolipid;
NCIt definition : An atypical, cytotoxic sphingolipid produced during abnormal de novo sphingolipid
synthesis in which the enzyme serine palmitoyltransferase (SPT) is mutated. During
de novo sphingolipid synthesis, SPT normally converts L-serine and palmitoyl-Coenzyme
A into 3-keto-dihydrosphingosine, which is processed further to form ceramide. Mutated
forms of SPT can accommodate the alternative substrates L-alanine or L-glycine, which
leads to the formation of the deoxysphingolipids, deoxysphinganine and deoxymethylsphinganine,
respectively. These atypical lipids are neither converted to ceramide nor degraded
by the cellular glycosphingolipid hydrolysis pathways. Therefore, deoxysphingolipids
can accumulate to neurotoxic levels, which can lead to neuropathy. Elevated plasma
levels of deoxysphingolipids may be associated with diabetes or metabolic syndrome.;
Origin ID : C116391;
UMLS CUI : C3896581;
Semantic type(s)
- concept_is_in_subset
