ABSTRACT
Deficiency of ADP-ribosyl-protein lyase leads to a disorder that may be a model for other diseases that affect the central nervous system, in which the small molecule that must be detected to identify the presence of the disease does not get out of the central nervous system. Glutamyl ribose-5phosphate accumulates in this disorder, but it was found only when brain tissue became available at autopsy [1]. It is now apparent that the compound also accumulates in kidney; so the diagnosis could be made by renal biopsy.
