The diagnostic difficulties of complex glycerol kinase deficiency.
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.
Ramanjam
Veruschka
V
Department of Child Development, Red Cross Children's Hospital, School of Child and Adolescent Health, Cape Town, South Africa. Verushka.Ramanjam@uct.ac.za
Delport
Stephen
S
Wilmshurst
Jo M
JM
D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D000309:Adrenal Insufficiency; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D002648:Child; D003937:Diagnosis, Differential; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D005991:Glycerol Kinase / Q000172:deficiency / Q000235:genetics; D006801:Humans; D000075262:Hypoadrenocorticism, Familial; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D013577:Syndrome
D005991:Glycerol Kinase