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Combined saposin deficiency: A rare occurrence.

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Combined saposin deficiency, a rare lysosomal disorder, stems from PSAP gene mutations. This report details the first confirmed Indian case, highlighting severe neurological symptoms and early mortality.

Keywords:
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Area of Science:

  • Genetics
  • Biochemistry
  • Neurology

Background:

  • Combined saposin deficiency is a rare lysosomal storage disorder caused by mutations in the PSAP gene.
  • Prosaposin, the protein encoded by PSAP, is crucial for neuronal survival and acts as a cofactor for enzymes involved in several lysosomal diseases.
  • Typical manifestations include severe neonatal neurological issues, enlarged liver and spleen, low platelets, and premature death.

Observation:

  • The patient presented with typical severe neonatal neurological features, hepatosplenomegaly, and thrombocytopenia.
  • This is the first reported case of combined saposin deficiency in India.

Findings:

  • Genetic testing confirmed a mutation in the PSAP gene.
  • Enzymatic testing supported the diagnosis of combined saposin deficiency.

Implications:

  • This case expands the known geographical distribution of combined saposin deficiency.
  • Highlights the importance of genetic and enzymatic diagnostics for rare diseases in diverse populations.