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KMID : 0918520130130010057
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Journal of the Korean Society of Inherited Metabolic Disease
2013 Volume.13 No. 1 p.57 ~ p.61
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Isolated Glycerol Kinase Deficiency
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Choi Joon-Wan
Lee Ye-Seung
Bae Eun-Joo
Oh Phil-Soo
Park Won-Il
Lee Hong-Jin
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Abstract
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Glycerol kinase deficiency (GKD) is an X-linked recessive enzyme defect characterized biochemically by hyperglycerolaemia and glyceroluria. GK gene is located on the short arm of X chromosome 21.3 region tandemly with AHC gene, and DMD gene and there is a long deletion resulting in contiguous gene deletion syndrome. In Korea there was a report of contiguous gene deletion syndrome of adrenal hypoplasia congenita, glycerol kinase deficiency and Duchenne muscular dystrophy but no isolated glycerol kinase deficiency. This is the first case of isolated glycerol kinase deficiency confirmed by organic acid analysis and gene analysis in Korea.
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KEYWORD
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Glycerol kinase deficiency, Hyperglycerolaemia, Glyceroluria
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