Nair et al. (1997) described a male infant with complex glycerol kinase deficiency. The boy, born to unrelated parents, presented with salt wasting and elevated creatinine kinase levels. He presented at three days of age with hypoglycemia which was corrected by 10% dextrose and nasogastric feeds. At the age of two weeks, he was admitted with excessive crying, irritability and vomiting, and was found to be failing to thrive. He was not dysmorphic but hypotonic and hypotensive. Investigations revealed hyponatremia, hyperkalemia, chloride of 86.4 mmol/L, urea of 15.6 mmol/L, creatinine of 33 mmol /L, and blood sugar of 4-5 mmol/L, but normal blood gases and anion gap. Staphylococcus aureus was grown from blood culture. Renal ultrasonography was normal. At this stage, he was managed by I/V Cefotaxime and dextrose saline infusions. He continued to have episodes of hyponatremia and hyperkalemia. Further investigations showed elevated levels of serum triglycerides, blood glycerol (4628umol/L), creatinine kinase (2000iu/L), ACTH level, plasma rennin activity, and serum aldosterone. While 17-OH progesterone level was found to be normal (excluding congenital adrenal hyperplasia), cortisol was found to be 183 nmol/L in both a.m. and p.m. blood samples. Later, an ACTH-stimulation test was consistent with adrenal insufficiency. The diagnosis of complex glycerol kinase deficiency was made according to the above results. He was prescribed oral hydrocortisone and fludrocortisone, and was put on low fat diet. Although he was thriving and gaining weight, he continued to be hypotonic, which remained to be the prognostic feature in his condition. Medical records of a male sibling of this patient showed him to have had hypotonia (congenital muscular dystrophy on muscle biopsy), failure to thrive, developmental delay, and elevated creatinine kinase. The sibling died at the age of one year. Nair and colleagues (1997) emphasized on the importance of measuring the plasma triglyceride levels in any male neonate with unexplained salt wasting.

[Nair PJ, Deshpande A, Al-Rahbi Y, Al-Kharusi F. Complex glycerol kinase deficiency. Oman Med J. 1997; 14(1):47-8.]