Human Molecular Genetics, Vol 6, 1803-1809, Copyright © 1997 by Oxford University Press
AH Huq, RS Lovell, CN Ou, AL Beaudet and WJ Craigen
Glycerol kinase is an X chromosome-encoded enzyme involved in the
metabolism of endogenous and dietary glycerolipids. The physiological
significance of its activity in mammals is not well understood. Glycerol
kinase deficiency in humans occurs as an isolated enzyme deficiency or as
part of a contiguous gene deletion syndrome in variable association with
Duchenne muscular dystrophy and adrenal hypoplasia congenita. Isolated
glycerol kinase deficiency has an inconstant phenotype, ranging from
asymptomatic hyperglycerolemia to a severe metabolic disorder with growth
and psychomotor retardation. Although intragenic mutations were reported
recently, the pathophysiological basis for the phenotypic variability
remains unknown. To understand better the physiological significance of
glycerol kinase and the pathophysiology of its deficiency, we generated
glycerol kinase-deficient mice by gene targeting. Mutant male mice appear
normal at birth, but exhibit postnatal growth retardation, altered fat
metabolism with profound hyperglycerolemia and elevated free fatty acids,
autonomous glucocorticoid synthesis and death by 3-4 days of age.
Heterozygous females are healthy and biochemically normal. The biochemical
features observed in glycerol kinase-deficient mice provide the basis for
further investigations into the pathogenesis of the human disorder.
ARTICLES
X-linked glycerol kinase deficiency in the mouse leads to growth retardation, altered fat metabolism, autonomous glucocorticoid secretion and neonatal death
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
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