Results 211 to 220 of about 185,850 (247)
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Isolated Glycerol Kinase Deficiency in a Neonate
Journal of Child Neurology, 1994Glycerol kinase deficiency occurs either as a relatively benign isolated enzyme deficiency, or as part of a syndrome resulting from a microdeletion in the p21 region of the X chromosome associated with congenital adrenal hypoplasia and/or Duchenne muscular dystrophy.
B, Lewis +5 more
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Glycerol kinase: substrate specificity
Journal of the American Chemical Society, 1985Glycerol kinase (8.C. 2.7.1.30, ATP: glycerol-3-phosphotransferase) catalyzes the phosphorylation of 28 nitrogen, sulfur, and alkyl-substituted of glycerol. A survey of 66 analogues has defined qualitatively the structural characteristics nffissary for acceptability as a substrate by this enzyme.
Debbie C. Crans, George M. Whitesides
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Glycerol kinase as a substitute for dihydroxyacetone kinase in a mutant of Klebsiella pneumoniae
Journal of Bacteriology, 1982With dihydroxyacetone as the sole source of carbon and energy, constitutively synthesized glycerol kinase of the glp system supported aerobic growth of Klebsiella pneumoniae mutants lacking the inducible dihydroxyacetone kinase of the dha system. Glycerol kinase had an apparent Km of 0.01 mM for its physiological substrate and 1 mM for its surrogate ...
R Z, Jin, R G, Forage, E C, Lin
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Specificity of glycerol kinase.
The Biochemical journal, 1975The activity of a number of alcohols was examined as substrates or inhibitors of glycerol kinase (ATP-glycerol phosphotransferase; EC 2.7.1.30) from Candida mycoderma. On the basis of these and other results, a modified model is proposed to account for the substrate specificity of the enzyme.
R, Eisenthal, R, Harrison, W J, Lloyd
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Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria
Biochemical and Biophysical Research Communications, 1977Abstract 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.
E R, McCabe +6 more
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A Case With the Infantile Type of Glycerol Kinase Deficiency
Pediatrics International, 1987AbstractA male infant with the infantile type of glycerol kinase deficiency is described. At six years of age, he showed proximal dominant muscle atrophy and weakness, addisonian pigmentation and mental retardation. Laboratory investigations revealed muscular dystrophy, adrenal insufficiency and glycerol kinase deficiency.
H, Kakinuma +8 more
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Glycerol kinase deficiency and adrenal hypoplasia congenita
Journal of Inherited Metabolic Disease, 1997Glycerol kinase deficiency (GKD) (McKusick 307030) is an X-linked inborn error of metabolism often diagnosed early in life with associated adrenal hypoplasia congenita ( A H C ) . AHC adrenal insufficiency can lead to failure of adaptation and death postnatally.
R A, Clarke +4 more
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Congenital Adrenal Hypoplasia and Glycerol Kinase Deficiency
Acta Paediatrica, 1989ABSTRACT. An unusual case of salt‐wasting id a male infant is reported. The cause was a small X‐chromosomal deletion within Xp21 resulting in the syndrome of congenital adrenal hypoplasia with glycerol kinase deficiency. This syndrome can readily be diagnosed by routine biochemical tests.
D A, Oleesky, V, Hakeem
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14 Glycerol and Glycerate Kinases
1973Publisher Summary This chapter describes the enzymes, glycerol kinase and glycerate kinase, which catalyze the transfer of the terminal phosphate of adenosine triphosphate (ATP) to glycerol and D-glycerate, respectively. In microorganisms, glycerol kinase functions primarily in the utilization of glycerol as a carbon and energy source by ...
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