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Pathway Description
Glycerol Kinase Deficiency
Homo sapiens
Disease Pathway
Created: 2022-11-25
Last Updated: 2023-10-25
Glycerol Kinase Deficiency (Hyperglycerolemia; Glyceroluria; GK Deficiency; GKD) is a rare metabolic disease caused by a deficiency in the GK gene which codes for glycerol kinase. A deficiency in this enzyme results in accumulation of glycerol in urine and serum. Symptoms include cryptorchism, strabismus, myopathy, lethargy, and vomiting. Treatment includes corticosteroids and acute glucose infusion.
References
Glycerol Kinase Deficiency References
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Pubmed: 8651297
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Pubmed: 20972264
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Pubmed: 16777854
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Pubmed: 16753811
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Pubmed: 2498333
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Pubmed: 8401584
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Pubmed: 7987308
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Pubmed: 10851254
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Pubmed: 24549054
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Pubmed: 7772607
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Pubmed: 14702039
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Pubmed: 2175712
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