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Combined Saposin Defiency is a very rare metabolic and genetic disorder that is caused by the mutation in a gene PSAP. This disease belongs to Lysosomal Storage Diseases(LSDs). Because of complete saposin deficiency, it can cause clinical features of 4 diseases(Gaucher’s Disease, Metachromatic Leukodystrophy, Farber’s Disease, Krabbe’s Disease) to be apparent.
Medical condition| Combined Saposin Deficiency | |
|---|---|
| Other names | Prosaposin Defiency, Combined Sap Deficiency, PSAPD |
 | |
| PSAPD is inherited in a Autosomal Recessive fashion | |
Cause
PSAPD is caused by mutations in a PSAP gene, which is located on the long arm of chromosome 10 (10q22.1).
Reference
- ^ "Entry - #611721 - COMBINED SAPOSIN DEFICIENCY; PSAPD - OMIM". omim.org. Retrieved 2025-01-07.
{{cite web}}: line feed character in|title=at position 6 (help) - Hulková, H.; Cervenková, M.; Ledvinová, J.; Tochácková, M.; Hrebícek, M.; Poupetová, H.; Befekadu, A.; Berná, L.; Paton, B.C.; Harzer, K.; Böör, A.; Smíd, F.; Elleder, M. (2001-04-15). "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". Human Molecular Genetics. 10 (9): 927–940. doi:10.1093/hmg/10.9.927. ISSN 0964-6906.
- Bhat, Vivek; Thergaonkar, R. W.; Thakur, Manisha; Rajkamal, T. (2023-03-01). "Combined saposin deficiency: A rare occurrence". Medical Journal Armed Forces India. 79 (2): 238–240. doi:10.1016/j.mjafi.2021.01.024. ISSN 0377-1237.