L-xylulosuria in a Lebanese family.
L-xylulosuria in a Lebanese family.
复制标题
黎巴嫩家庭的 L-木糖尿症。
DOI：
--
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发表时间：
1962
影响因子：
9.8
通讯作者：
H. Fleischmann
中科院分区：
文献类型：
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作者：
W. Politzer;H. Fleischmann
L-XYLULOSURIA (PENTOSURIA) is an inborn error of metabolism characterized by the presence in the urine of the ketopentose L-xylulose (synonyms: L-xyloketose, L-threo-pentulose, L-threo-ketopentose; Pigman, 1957). It is a harmless condition and no treatment is required. It is also an extremely rare condition and altogether only about 200 cases have been described in the literature (Knox, 1958; Touster, 1959). Most of these cases have occurred in small family groups with a familial incidence. Our investigation is of a large kindred, embracing four generations of a Lebanese family. The occurrence of L-xylulosuria in two sisters of this family (Fig. 1: V-16 and V-19) was previously reported by Barnes and Bloomberg (1953).
