LSDDB

Krabbe disease - Atypical

This is an atypical form of Krabbe disease which occurs due to a deficiency in Saposin A. The gene PSAP encoding Saposin is located at 10q22.2. The disease is inherited as an autosomal recessive manner. No single nucleotide polymorphisms have been reported to cause this disorder yet. However, the deletion mutation of three base pairs leading to deletion of valine at a conserved site has been reported to causes this disease (Spiegel et al., 2005).

Reference :
Spiegel, R. et al. (2005) ‘A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans’, Molecular Genetics and Metabolism, 84(2), pp. 160–166. doi:10.1016/j.ymgme.2004.10.004.