COMPLEX GLYCEROL KINASE-DEFICIENCY - AN UNUSUAL CAUSE OF SALT-WASTINGIN MALES

We report the case of a male infant who at 10 days of life presented w ith salt-wasting. Congenital adrenal hyperplasia was excluded on the b asis of normal 17 alpha-hydroxyprogesterone plasma levels evaluated be fore the onset of steroid replacement therapy. The incidental finding of hypertriglyceridaemia led us to suspect the condition of complex gl ycerol kinase deficiency which was confirmed by the direct measurement of serum glycerol (7.16 mmol/l, normal range 0.02-0.21). Serum creati ne kinase was markedly elevated (5963 U/l, normal range 37-290). High resolution cytogenetic investigation of peripheral blood showed a smal l interstitial deletion within Xp21. The same deletion was found in th e patient's mother although not in his maternal grandmother. We presen t this case in order to emphasize the necessity of evaluating plasma t riglycerides in all neonatal males with salt-wasting which can not be explained by congenital adrenal hyperplasia. Plasma triglycerides meas urement carried out using a routine clinical method which measures gly cerol released after lipolysis facilitates early recognition of this s yndrome, and enables appropriate therapy and subsequent genetic counse lling.