Congenital adrenal hypoplasia and glycerol kinase deficiency.
An unusual case of salt-wasting in a male infant is reported. The cause was a small X-chromosomal deletion within Xp21 resulting in the syndrome of congenital adrenal hypoplasia with glycerol kinase deficiency. This syndrome can readily be diagnosed by routine biochemical tests.
Oleesky
D A
DA
Department of Biochemistry, Royal Gwent Hospital, Wales, United Kingdom.
Hakeem
V
V
D000309:Adrenal Insufficiency / Q000151:congenital* / Q000201:enzymology / Q000235:genetics; D002872:Chromosome Deletion; D005991:Glycerol Kinase / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010770:Phosphotransferases / Q000172:deficiency*; D014960:X Chromosome
D010770:Phosphotransferases; D005991:Glycerol Kinase