The Diagnostic Difficulties of Complex Glycerol Kinase Deficiency

Abstract

We describe 2 siblings with the contiguous X-linked gene deletion syndrome, complex glycerol kinase deficiency. The elder sibling demonstrated the difficulties diagnosing this rare condition. Affected children have the combined complications of congenital adrenal hypoplasia, Duchenne muscular dystrophy, and glycerol kinase deficiency. These patients illustrate the importance of genetic testing and prepregnancy counseling. In addition, they demonstrate the need for a multidisciplinary team approach in their management.