Combined saposin deficiency: A rare occurrence

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.