Complex glycerol kinase deficiency: an X-linked disorder associated with adrenal hypoplasia congenita.
Complex glycerol kinase deficiency (GKD) results from the contiguous deletion on Xp21 of all or part of the gene for glycerol kinase together with that for adrenal hypoplasia congenita (AHC) and /or Duchenne muscular dystrophy (DMD). The authors present the case of a newborn whose initial issues were refractory hypoglycaemia along with hyponatremia and hyperkalemia. He also had low serum cortisol levels and raised urinary excretion of glycerol and required steroid supplementation. His creatinine phosphokinase (CPK) levels were normal. Molecular studies revealed a contiguous Xp21 deletion. Therapy in such cases must be prompt and includes correction of hypoglycaemia and dyselectrolytemia, a low fat diet and steroid replacement.
Sehgal
Arvind
A
Department of Newborn Care, Liverpool Hospital, South Western Sydney Area Health Service, Sydney, New South Wales, Australia. jyotiarvind@hotmail.com
Stack
Jacqueline
J
D000307:Adrenal Gland Diseases / Q000150:complications / Q000235:genetics*; D002872:Chromosome Deletion; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000150:complications*; D005991:Glycerol Kinase / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D006947:Hyperkalemia / Q000209:etiology; D007010:Hyponatremia / Q000209:etiology; D007231:Infant, Newborn; D008297:Male; D008661:Metabolism, Inborn Errors / Q000235:genetics*
D005991:Glycerol Kinase