title: Glycerol kinase deficiency in two brothers with and without clinical manifestations.
abstract: We report two brothers with glycerol kinase deficiency (GKD). The older brother had serious clinical symptoms, mental and growth retardation, abnormal skeleton, spontaneous fractures and premature loss of abnormal teeth. He and his mother had low serum phosphate levels. He had elevated serum and urine glycerol levels and GKD was found in cultured fibroblasts. Prenatal diagnosis was performed in the second pregnancy. Glycerol kinase activity was considered normal in a chorionic villus sample of the foetus. After birth, it was found that the boy had elevated serum and urine glycerol levels. Enzymatic analysis in cultured fibroblasts revealed that this boy also had GKD, in spite of having no expression of the disease. Chromosomal analyses in the parents and both boys were normal. Major rearrangements or deletions were not detected in molecular studies of DNA from the two brothers. The hybridisation pattern was normal and no allelic loss was observed.
authors.affiliation: Department of Paediatrics, Umeå University, Sweden.
authors.forename: H K
authors.initials: HK
authors.lastname: Blomquist
authors.forename: N
authors.initials: N
authors.lastname: Dahl
authors.forename: L
authors.initials: L
authors.lastname: Gustafsson
authors.forename: C
authors.initials: C
authors.lastname: Hellerud
authors.forename: E
authors.initials: E
authors.lastname: Holme
authors.forename: G
authors.initials: G
authors.lastname: Holmgren
authors.forename: L
authors.initials: L
authors.lastname: Matsson
authors.forename: M
authors.initials: M
authors.lastname: von Zweigbergk
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology* / Q000235:genetics / Q000503:physiopathology; D002648:Child; D005260:Female; D005991:Glycerol Kinase / Q000172:deficiency* / Q000235:genetics*; D006130:Growth Disorders / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology; D008297:Male; D009460:Neurologic Examination; D009885:Ophthalmology; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D005991:Glycerol Kinase