A deficiency of human LIMP-2, a receptor for lysosomal mannose 6-phosphate-independent targeting of the β-glucosidase (βGC), due to mutations in the SCARB2 gene was described only in six families presented with progressive myoclonic epilepsy and nephrotic syndrome. In one of them a mistarget of the βGC was demonstrated. We report here the biochemical and molecular findings in a patient diagnosed with progressive myoclonic epilepsy due to a mistarget of the βGC, probably caused by a LIMP-2 deficiency, providing valuable information for the diagnosis of this rare disorder.
- LIMP-2 deficiency
ASJC Scopus subject areas
- Molecular Biology
- Endocrinology, Diabetes and Metabolism