一名两岁肝硬化男孩的转醛醇酶缺乏症
Transaldolase deficiency in a two-year-old boy with cirrhosis.
作者信息
Wamelink Mirjam M, Struys Eduard A, Salomons Gajja S, Fowler Darren, Jakobs Cornelis, Clayton Peter T
机构信息
Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, De Boelelaan 1117, 1081 Amsterdam, The Netherlands.
出版信息
Mol Genet Metab. 2008 Jun;94(2):255-8. doi: 10.1016/j.ymgme.2008.01.011. Epub 2008 Mar 10.
Transaldolase (TALDO) deficiency is a rare inborn error of the pentose phosphate pathway. We report the clinical presentation and laboratory findings of a new patient with TALDO deficiency. The two-year-old Arabic boy presented with neonatal onset of anemia and thrombocytopenia, tubulopathy, and rickets and was subsequently found to have cirrhosis and deafness. A comparison with other TALDO deficient patients is given.
转醛醇酶（TALDO）缺乏症是一种罕见的戊糖磷酸途径先天性代谢缺陷病。我们报告了一名新的TALDO缺乏症患者的临床表现和实验室检查结果。这名两岁的阿拉伯男孩自新生儿期起就出现贫血、血小板减少、肾小管病变和佝偻病，随后被发现患有肝硬化和耳聋。本文还对其他TALDO缺乏症患者进行了比较。
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