Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria

Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria

Two brothers with a previously unidentified syndrome of severe osteoporosis and neuromuscular disease have elevated concentrations of glycerol in serum and urine. A deficiency of glycerol kinase in leukocytes of both patients is described.

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Bibliographische Detailangaben
Veröffentlicht in:Biochemical and biophysical research communications 1977-10, Vol.78 (4), p.1327-1333
Hauptverfasser: McCabe, Edward R.B., Fennessey, Paul V., Anne Guggenheim, Mary, Miles, Barbara S., Bullen, William W., Sceats, Donald J., Goodman, Stephen I.
Format: Artikel
Sprache:eng
Schlagworte:
Child, Preschool
Chromatography, Gas
Female
Glycerol - metabolism
Glycerol Kinase - blood
Glycerol Kinase - deficiency
Humans
Leukocytes - enzymology
Male
Phosphotransferases - deficiency
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Beschreibung
Zusammenfassung:Two brothers with a previously unidentified syndrome of severe osteoporosis and neuromuscular disease have elevated concentrations of glycerol in serum and urine. A deficiency of glycerol kinase in leukocytes of both patients is described.
ISSN:0006-291X
1090-2104
DOI:10.1016/0006-291X(77)91437-1