[2, 9, 10] Spinal stenosis is a frequent sign of bone dysplasia, while it is rarely reported in rhizomelic CDP cases [11-13] RCDP2 is caused by deficiency of the peroxisomal enzyme
dihydroxyacetone phosphate acyltransferase (DHAPAT), encoded by GNPAT.
We developed a sensitive liquid chromatography-tandem mass spectrometry (LC-MS/ MS) method to simultaneously analyze the intracellular sugar phosphates
dihydroxyacetone phosphate (DHAP), glyceraldehyde 3-phosphate, erythrose 4-phosphate, ribose 5-phosphate, ribulose 5-phosphate, xylulose 5-phosphate, fructose 6-phosphate, glucose 6-phosphate, and sedoheptulose 7-phosphate in blood spots.