| H01239 | |
| H number | H01239 |
| Name | Combined SAP deficiency; Prosaposin deficiency |
| Description | Combined SAP deficiency is a fatal infantile lysosomal storage disorder with hepatosplenomegaly and severe neurological disease. It is caused by mutations in the PSAP gene leading to absence or non-functionality of the prosaposin protein. Mammalian prosaposin encodes in tandem four small acidic activator proteins (saposins) with specificities for glycosphingolipids hydrolases. |
| Category | Inherited metabolic disorder, Lysosomal disease |
| Network | - |
| Gene | PSAP [HSA:5660] [KO:K12382] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | Defects in PSAP saposin-B region are the cause of metachromatic leukodystrophy [DS:H00127]. Defects in PSAP saposin-C region are the cause of atypical Gaucher disease [DS:H00126]. Defects in PSAP saposin-A region are the cause of atypical Krabbe disease [DS:H00135]. |
| Other DBs | ICD-11: 5C56.0Y ICD-10: E75.2 MeSH: C567125 OMIM: 611721 |
| Reference | PMID:1371116 AUTHORS Schnabel D, Schroder M, Furst W, Klein A, Hurwitz R, Zenk T, Weber J, Harzer K, Paton BC, Poulos A, et al. TITLE Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene. JOURNAL J Biol Chem 267:3312-5 (1992) DOI:10.1016/S0021-9258(19)50733-5 PMID:11309366 AUTHORS Hulkova H, Cervenkova M, Ledvinova J, Tochackova M, Hrebicek M, Poupetova H, Befekadu A, Berna L, Paton BC, Harzer K, Boor A, Smid F, Elleder M TITLE A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. JOURNAL Hum Mol Genet 10:927-40 (2001) DOI:10.1093/hmg/10.9.927 PMID:17353235 AUTHORS Sun Y, Witte DP, Zamzow M, Ran H, Quinn B, Matsuda J, Grabowski GA TITLE Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking. JOURNAL Hum Mol Genet 16:957-71 (2007) DOI:10.1093/hmg/ddm040 |