Glycerol kinase deficiency presenting with hypodipsia, osmotic diuresis and severe hypernatraemia.
A Chinese boy with glycerol kinase deficiency is reported. His presentation with severe hypernatraemia secondary to hypodipsia and glycerol-induced osmotic diuresis is unusual and not previously described in the literature.
Mak
T W L
TW
Department of Clinical Pathology, Tuen Mun Hospital, Tuen Mun, Hong Kong Special Administrative Region, China. makwl@ha.org.hk
Wong
L M
LM
Wong
S N
SN
Tse
K
K
Lai
J P S
JP
D002648:Child; D041321:Chromosomes, Human, X; D004231:Diuresis; D008040:Genetic Linkage; D005991:Glycerol Kinase / Q000172:deficiency*; D006801:Humans; D006955:Hypernatremia / Q000175:diagnosis*; D008297:Male; D008661:Metabolism, Inborn Errors / Q000175:diagnosis*; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000473:pathology; D009154:Mutation; D009995:Osmosis; D013997:Time Factors
D005991:Glycerol Kinase