Complex glycerol kinase deficiency

ABSTRACT

We report a case of a male infant who presented at 14 days of life with salt-wasting, and raised creatine kinase level. Congenital adrenal hyperplasia was excluded on the basis of normal 17-hydroxy-progesterone plasma levels. Complex glycerol kinase deficiency was suspected when hyper triglyceridemia was found. Early steroid replacement therapy was instituted on the basis of the association of adrenal hypoplasia in this condition. We emphasise the necessity of evaluating plasma triglycerides in all neonatal males with salt wasting which cannot be explained by congenital adrenal hyperplasia