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| ⚫ | '''Combined Saposin Defiency''' is a very rare ] and ] that is caused by the mutation in a gene ].<ref name=":0">{{Cite web |title=Entry - #611721 - COMBINED SAPOSIN DEFICIENCY; PSAPD - OMIM |url=https://omim.org/entry/611721 |access-date=2025-01-07 |website=omim.org |language=en-us}}</ref> This disease belongs to ](LSDs).<ref>{{Cite journal |last1=Hulková |first1=H. |last2=Cervenková |first2=M. |last3=Ledvinová |first3=J. |last4=Tochácková |first4=M. |last5=Hrebícek |first5=M. |last6=Poupetová |first6=H. |last7=Befekadu |first7=A. |last8=Berná |first8=L. |last9=Paton |first9=B.C. |last10=Harzer |first10=K. |last11=Böör |first11=A. |last12=Smíd |first12=F. |last13=Elleder |first13=M. |date=2001-04-15 |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 |url=https://academic.oup.com/hmg/article-abstract/10/9/927/2901567?redirectedFrom=fulltext&login=false |journal=Human Molecular Genetics |volume=10 |issue=9 |pages=927–940 |doi=10.1093/hmg/10.9.927 |pmid=11309366 |issn=0964-6906}}</ref> Because of complete saposin deficiency, it can cause clinical features of 4 diseases(], ], ], ]) to be apparent.<ref name=":1">{{Cite journal |last1=Bhat |first1=Vivek |last2=Thergaonkar |first2=R. W. |last3=Thakur |first3=Manisha |last4=Rajkamal |first4=T. |date=2023-03-01 |title=Combined saposin deficiency: A rare occurrence |journal=Medical Journal Armed Forces India |volume=79 |issue=2 |pages=238–240 |doi=10.1016/j.mjafi.2021.01.024 |pmid=36969110 |pmc=10037043 |issn=0377-1237}}</ref> | ||
| {{Infobox medical condition | {{Infobox medical condition | ||
| | name = Combined Saposin Deficiency | | name = Combined Saposin Deficiency | ||
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| | caption = PSAPD is inherited in a Autosomal Recessive fashion | | caption = PSAPD is inherited in a Autosomal Recessive fashion | ||
| }} | }} | ||
| ⚫ | '''Combined Saposin Defiency''' is a very rare ] and ] that is caused by the mutation in a gene ].<ref name=":0">{{Cite web |title=Entry - #611721 - COMBINED SAPOSIN DEFICIENCY; PSAPD - OMIM |url=https://omim.org/entry/611721 |access-date=2025-01-07 |website=omim.org |language=en-us}}</ref> This disease belongs to ](LSDs).<ref>{{Cite journal |last1=Hulková |first1=H. |last2=Cervenková |first2=M. |last3=Ledvinová |first3=J. |last4=Tochácková |first4=M. |last5=Hrebícek |first5=M. |last6=Poupetová |first6=H. |last7=Befekadu |first7=A. |last8=Berná |first8=L. |last9=Paton |first9=B.C. |last10=Harzer |first10=K. |last11=Böör |first11=A. |last12=Smíd |first12=F. |last13=Elleder |first13=M. |date=2001-04-15 |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 |url=https://academic.oup.com/hmg/article-abstract/10/9/927/2901567?redirectedFrom=fulltext&login=false |journal=Human Molecular Genetics |volume=10 |issue=9 |pages=927–940 |doi=10.1093/hmg/10.9.927 |pmid=11309366 |issn=0964-6906}}</ref> Because of complete saposin deficiency, it can cause clinical features of 4 diseases(], ], ], ]) to be apparent.<ref name=":1">{{Cite journal |last1=Bhat |first1=Vivek |last2=Thergaonkar |first2=R. W. |last3=Thakur |first3=Manisha |last4=Rajkamal |first4=T. |date=2023-03-01 |title=Combined saposin deficiency: A rare occurrence |journal=Medical Journal Armed Forces India |volume=79 |issue=2 |pages=238–240 |doi=10.1016/j.mjafi.2021.01.024 |pmid=36969110 |pmc=10037043 |issn=0377-1237}}</ref> | ||
| == Cause == | == Cause == | ||
Revision as of 11:04, 10 January 2025
Medical condition| Combined Saposin Deficiency | |
|---|---|
| Other names | Prosaposin Defiency, Combined Sap Deficiency, PSAPD |
 | |
| PSAPD is inherited in a Autosomal Recessive fashion | |
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.
Cause
PSAPD is caused by mutations in a PSAP gene, which is located on the long arm of chromosome 10 (10q22.1).
Symptoms
Symptoms usually start in infancy or in neonatal age. The signs of this disease are respiratory failure, hepatosplenomegaly, poor feeding, myoclonus, hyperkinetic movements, clonic seizures, leukodystrophy, hypotonia, abnormality of eye movement and a neuronal loss.
Optic atrophy was only reported in 1 patient
Pathophysiology
It’s known that Prosaposin is a precursor of a Saposin A,B,C,D. Saposin A is needed to activate galactocerbroside hydrolysis, Saposin B for sulphatide hydrolysis activation, Saposin C for glucocerebroside hydrolysis, Saposin D might activate hydrolysis of ceramide.
According to one study, Prosaposin might be involved in neuron and glial protection by extracellular secretion and activation of some G protein-coupled receptors.
In conclusion, PSAPD might not only cause accumulation of some sphingolipids, but also it can cause neuronal survival crisis (by mechanism mentioned above).
Prevalence
Prevalence is unknown but 10 cases of this diseases had been reported.
Diagnosis
The study of sphingolipids in urine sediment (It shows combined massive elevation of globotriaosylceramide (Gb3), sulphatide and some other sphingolipids) might be useful for a correct orientation towards diagnosis, also bone marrow/liver’s biopsies usually show Gaucher-like macrophages. For the final diagnosis PSAP gene would be tested for mutations.
Prognosis
Unfortunately, prognosis is poor for this disease.
History
It was first reported by Harzer et al. in 1989
Reference
- ^ "Entry - #611721 - COMBINED SAPOSIN DEFICIENCY; PSAPD - OMIM". omim.org. Retrieved 2025-01-07.
- 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. PMID 11309366.
- ^ 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. PMC 10037043. PMID 36969110.
- ^ "Orphanet: Encephalopathy due to prosaposin deficiency". www.orpha.net. Retrieved 2025-01-07.
- "Orphanet: Clinical signs and symptoms". www.orpha.net. Retrieved 2025-01-07.
- "Saposins: structure, function, distribution, and molecular genetics".
- Gebai, Ahmad; Gorelik, Alexei; Nagar, Bhushan (2018-11-01). "Crystal structure of saposin D in an open conformation". Journal of Structural Biology. 204 (2): 145–150. doi:10.1016/j.jsb.2018.07.011. ISSN 1047-8477.
- Meyer, Rebecca C.; Giddens, Michelle M.; Coleman, Brilee M.; Hall, Randy A. (2014-10-17). "The protective role of prosaposin and its receptors in the nervous system". Brain Research. 1585: 1–12. doi:10.1016/j.brainres.2014.08.022. ISSN 0006-8993.
- Harzer, K.; Paton, B. C.; Poulos, A.; Kustermann-Kuhn, B.; Roggendorf, W.; Grisar, T.; Popp, M. (1989-10-01). "Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: Biochemical signs of combined sphingolipidoses". European Journal of Pediatrics. 149 (1): 31–39. doi:10.1007/BF02024331. ISSN 1432-1076.