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Glycerol kinase deficiency in two brothers with and without clinical manifestations
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
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1996 (English)In: Clinical Genetics, ISSN 0009-9163, Vol. 50, no 5, 375-9 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
1996. Vol. 50, no 5, 375-9 p.
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-52122PubMedID: 9007327OAI: oai:DiVA.org:uu-52122DiVA: diva2:80031
Available from: 2008-10-17 Created: 2008-10-17 Last updated: 2009-09-23Bibliographically approved

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