Glycerate Kinase Deficiency

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发表日期：

2024年

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Udara D. Senarathne,
Neluwa-Liyanage R. Indika,
Ellen Crushell

摘要

D-glycerate kinase deficiency (DGKD) is an inborn error of metabolism (IEM) in serine and fructose catabolism, characterized by isolated elevation of the D-glycerate (D-glyceric acid) leading to D-glyceric acidemia/aciduria (DGA). It is a rare metabolic disorder with only 17 individuals described in the medical literature to date. The clinical presentation of DGKD is reported to be highly variable with more recent evidence pointing more towards DGKD patients being asymptomatic.