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Rare Saposin A deficiency: Novel variant and psychosine analysis
Abstract
Saposin A is a post-translation product of the prosaposin (PSAP) gene that serves as an activator protein of the galactocerebrosidase (GALC) enzyme, and is necessary for the degradation of certain glycosphingolipids. Deficiency of saposin A leads to a clinical picture identical to that of early-infantile Krabbe disease caused by GALC enzyme deficiency. Galactosylsphingosine, also known as psychosine, is a substrate of the GALC enzyme that is known to be elevated in classic Krabbe disease. We present the case of an 18-month-old male with clinical and radiological findings concerning for Krabbe disease who had preserved GALC enzyme activity and negative GALC gene sequencing, but was found to have a homozygous variant, c.257 T > A (p.I86N), in the saposin A peptide of PSAP. Psychosine determination on dried blood spot at 18 months of age was elevated to 12 nmol/L (normal <3 nmol/L). We present this case to add to the literature on the rare diagnosis of atypical Krabbe disease due to saposin A deficiency, to report a novel presumed pathogenic variant within PSAP, and to suggest that individuals with saposin A deficiency may have elevated levels of psychosine, similar to children with classic Krabbe disease due to GALC deficiency.
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“Genetic PSAP deficiency in humans also causes various forms of progressive neurodegenerative conditions depending on the type of mutation in the PSAP gene (48–51).”
From Treatment of a genetic brain disease by CNS-wide microglia replacement (2022) · cites this paper as [48]
Citations
Cites
Spiegel, R., Bach, G., Sury, V., Mengistu, G., Meidan, B., Shalev, S., Shneor, Y., Mandel, H., & Zeigler, M. (2005) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2004.10.004 · Cited by 129
Research works printed but not linked: 13
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Cited by
Treatment of a genetic brain disease by CNS-wide microglia replacement
Shibuya, Y., Kumar, K. K., Mader, M. M.-D., Yoo, Y., Ayala, L. A., Zhou, M., Mohr, M. A., Neumayer, G., Kumar, I., Yamamoto, R., et al. (2022) · Science Translational Medicine · doi:10.1126/scitranslmed.abl9945 · Cited by 126
Metadata
- Authors
- Calderwood, L., Wenger, D. A., Matern, D., Dahmoush, H., Watiker, V., & Lee, C.
- Venue
- Molecular Genetics and Metabolism
- Publisher
- Elsevier BV
- Published
- 2020-02
- Volume
- 129
- Issue
- 2
- Pages
- 161-164
- ISSN
- 1096-7192
- Cited by
- 18
- References
- 1
- Language
- en
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- Calderwood, L., Wenger, D. A., Matern, D., Dahmoush, H., Watiker, V., & Lee, C. (2020). Rare Saposin A deficiency: Novel variant and psychosine analysis. Molecular Genetics and Metabolism. https://doi.org/10.1016/j.ymgme.2019.08.001
