Features include always present findings: Elevated serum acid phosphatase, Bone pain, Status epilepticus, and Loss of previously acquired skills (developmental regression) and others; and common findings: Hypersplenism, Hypocholesterolemia, Mild bone density loss (osteopenia), and Erlenmeyer flask deformity of the femurs. 23 total HPO annotations.

PSAP function has not been fully characterized.

Gaucher disease due to saposin C deficiency is caused by mutations in the PSAP gene on chromosome 10.

Genetic testing for PSAP is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 17 always present features, 4 common features.

No clinical trials have been registered for Gaucher disease due to saposin C deficiency.

6 publications have been identified in PubMed for Gaucher disease due to saposin C deficiency. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (33%), and Gene Therapy / Novel Therapeutics (17%).

Recent Publications

• Minea C (2026). [PMID: 41812503](https://pubmed.ncbi.nlm.nih.gov/41812503/). *Molecular genetics and metabolism*. [Basic Science / Preclinical]

• Taha HB (2026). [PMID: 41627451](https://pubmed.ncbi.nlm.nih.gov/41627451/). *Journal of molecular medicine (Berlin, Germany)*. [Review / Meta-Analysis]

• Hodul M (2026). [PMID: 41572567](https://pubmed.ncbi.nlm.nih.gov/41572567/). *Journal of neurochemistry*. [Gene Therapy / Novel Therapeutics]

• Elahimanesh M (2025). [PMID: 41323100](https://pubmed.ncbi.nlm.nih.gov/41323100/). *Molecular genetics and metabolism reports*. [Basic Science / Preclinical]

• Li X (2025). [PMID: 40801564](https://pubmed.ncbi.nlm.nih.gov/40801564/). *Cells*. [Review / Meta-Analysis]