转醛醇酶(transaldolase,TALDO)缺陷病是一种罕见的先天性戊糖磷酸通路(pentose phosphate pathway,PPP)缺陷累及多系统的常染色体隐性遗传性疾病。2001年由Nanda等~([1])首次报道,临床表现为严重的、早期发病的多系统疾病,受累机体的体液中尤其是尿液中多元醇(poylo)浓度异常。截止到目前世界上共报道了32例患者~([1-12]),多数在土耳其或阿拉伯国家的近亲结婚家庭~([5]),目前仅2010年Balasubramaniam等学者报道 Transaldolase (TALDO) deficiency is a rare, involuntary pentose phosphate pathway (PPP) deficient multi-system autosomal recessive disease. It was first reported by Nanda et al in 2001 [1] that clinical manifestations were severe, early-onset, multisystem diseases with abnormal concentrations of poylo in body fluids, especially in urine. Up to the present, a total of 32 patients ~ ([1-12]) were reported in the world, most of whom are close relatives married in Turkey or Arab countries ~ ([5]). Currently, only Balasubramaniam et al reported in 2010