Combined saposin deficiency: A rare occurrence
| Autor: | R.W. Thergaonkar, Vivek Bhat, Manisha Thakur, T. Rajkamal |
|---|---|
| Rok vydání: | 2023 |
| Předmět: |
0301 basic medicine
Prosaposin Farber disease Mutation business.industry 030106 microbiology Hepatosplenomegaly General Medicine Disease medicine.disease medicine.disease_cause Metachromatic leukodystrophy 03 medical and health sciences 0302 clinical medicine Immunology Krabbe disease Medicine 030212 general & internal medicine medicine.symptom business Gene |
| Zdroj: | Medical Journal Armed Forces India. 79:238-240 |
| ISSN: | 0377-1237 |
| DOI: | 10.1016/j.mjafi.2021.01.024 |
| Popis: | Combined saposin deficiency (OMIM #611721), an exceedingly rare lysosomal storage disorder, is caused by a mutation in the gene PSAP. This gene encodes a protein, prosaposin, that cleaves into four constituent proteins, each of which has a role as a cofactor for the enzymes whose deficiency results in Krabbe disease, metachromatic leukodystrophy, Gaucher disease, and Farber disease, respectively. Intact prosaposin itself is essential for neuronal survival. The typical manifestation of combined saposin deficiency is of severe neurological features in the neonatal period, hepatosplenomegaly, thrombocytopenia, and early death. We report, to the best of our knowledge, the first Indian case with these clinical manifestations and confirmation by genetic and enzymatic testing. |
| Databáze: | OpenAIRE |
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