Glycerol kinase deficiency
Glycerol kinase deficiency (GKD) is an X-linked recessive enzyme defect that is heterozygous in nature. Three clinically distinct forms of this deficiency have been proposed, namely infantile, juvenile, and adult. National Institutes of Health and its Office of Rare Diseases Research branch classifies GKD as a rare disease, known to affect fewer than 200,000 individuals in the United States. The responsible gene lies in a region containing genes in which deletions can cause Duchenne muscular dystrophy and adrenal hypoplasia congenita. Combinations of these three genetic defects including GKD are addressed medically as Complex GKD.
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Glycerol kinase deficiency
Glycerol kinase deficiency (GKD) is an X-linked recessive enzyme defect that is heterozygous in nature. Three clinically distinct forms of this deficiency have been proposed, namely infantile, juvenile, and adult. National Institutes of Health and its Office of Rare Diseases Research branch classifies GKD as a rare disease, known to affect fewer than 200,000 individuals in the United States. The responsible gene lies in a region containing genes in which deletions can cause Duchenne muscular dystrophy and adrenal hypoplasia congenita. Combinations of these three genetic defects including GKD are addressed medically as Complex GKD.
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Der Glycerol-Kinase-Mangel ist ...... E.R.B. McCabe und Mitarbeiter.
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Glycerol kinase deficiency (GK ...... ssed medically as Complex GKD.
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synonym
GKD
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Der Glycerol-Kinase-Mangel ist ...... E.R.B. McCabe und Mitarbeiter.
@de
Glycerol kinase deficiency (GK ...... ssed medically as Complex GKD.
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label
Glycerol kinase deficiency
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Glycerol-Kinase-Mangel
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