KEGG   DISEASE: Combined SAP deficiency
Entry
H01239                      Disease                                
Name
Combined SAP deficiency;
Prosaposin deficiency
  Supergrp
Lysosomal storage disease [DS:H01425]
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
Congenital disorder of metabolism; Lysosomal storage disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Lysosomal storage diseases
   H01239  Combined SAP deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H01239  Combined SAP deficiency
Related
pathway
hsa00600  Sphingolipid metabolism
hsa04142  Lysosome
Gene
PSAP [HSA:5660] [KO:K12382]
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)
Reference
  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
Reference
  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
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