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Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency

被引：53
作者：
Wolf, B
Spencer, R
Gleason, T
机构：
[1] Connecticut Childrens Med Ctr, Dept Res, Hartford, CT 06106 USA
[2] Univ Connecticut, Sch Med, Dept Pediat, Hartford, CT 06112 USA
[3] Virginia Commonwealth Univ, Med Coll Virginia, Dept Anat, Richmond, VA 23298 USA
[4] Virginia Commonwealth Univ, Med Coll Virginia, Dept Otolaryngol, Richmond, VA 23298 USA
[5] Univ Virginia, Med Ctr, Dept Otolaryngol Head & Neck Surg, Charlottesville, VA USA
来源：
JOURNAL OF PEDIATRICS | 2002年 / 140卷 / 02期
关键词：
D O I：
10.1067/mpd.2002.121938
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
Sensorineural hearing loss occurs in approximately 75% of symptomatic children with profound biotinidase deficiency, which is more common than originally thought. The hearing loss varies in severity and is usually irreversible. The biochemical, genotype, and clinical variations do not correlate with the development of hearing loss. Thus, it is very important to diagnose the disorder early, especially by newborn screening, to prevent the hearing loss.
引用
收藏
页码：242 / 246
页数：5
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