D‐glyceric aciduria is caused by genetic deficiency of D‐glycerate kinase (GLYCTK)

摘要: D-glyceric aciduria is a rare inborn error of serine and fructose metabolism that was first described in 1974. Most affected individuals have presented with neurological symptoms. The molecular basis largely unknown; possible causes been discussed are deficiencies D-glycerate dehydrogenase, triokinase, kinase. In 1989, van Schaftingen has reported decreased kinase activity the liver single patient aciduria. However, this analysis not performed other individuals, underlying defect remained unknown on gene level until now. We report three patients deficiency They Serbian, Mexican, Turkish origin include initially All had homozygous mutations exon 5 GLYCTK encoding kinase: c.1448delT (p.Phe483SerfsX2), c.1478T>G (p.Phe493Cys), or c.1558delC (p.Leu520CysfsX108). Transient overexpression variant genes HEK293 cells clearly showed loss enzyme immunoreactivity when compared to reference enzyme. Our work revealed as cause provides noninvasive approach for further diagnostic workup research.