title: Glycerol kinase deficiency presenting with hypodipsia, osmotic diuresis and severe hypernatraemia.
abstract: 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.
authors.affiliation: Department of Clinical Pathology, Tuen Mun Hospital, Tuen Mun, Hong Kong Special Administrative Region, China. makwl@ha.org.hk
authors.forename: T W L
authors.initials: TW
authors.lastname: Mak
authors.forename: L M
authors.initials: LM
authors.lastname: Wong
authors.forename: S N
authors.initials: SN
authors.lastname: Wong
authors.forename: K
authors.initials: K
authors.lastname: Tse
authors.forename: J P S
authors.initials: JP
authors.lastname: Lai
mesh_terms: 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
chemical_list: D005991:Glycerol Kinase