Danes B S
J Med Genet. 1977 Oct;14(5):346-51. doi: 10.1136/jmg.14.5.346.
An alpha-L-iduronidase deficiency syndrome has been described in adult male twins, which was phenotypically distinct from that of the Hurler and Scheie syndromes or the chondroitinsulphaturias. Multiple dysostosis and stiff joints were present without cloudy corneae, cardiac involvement and mental or physical retardation. This clinical phenotype appeared to be a newly recognized allelic mutation at the iduronidase locus but does not exclude a non-allelic mutation coding for a subunit of the iduronidase molecule.
在成年男性双胞胎中已描述了一种α-L-艾杜糖醛酸酶缺乏综合征，其表型与Hurler综合征、Scheie综合征或硫酸软骨素尿症不同。存在多处骨发育异常和关节僵硬，但无角膜混浊、心脏受累以及智力或身体发育迟缓。这种临床表型似乎是艾杜糖醛酸酶基因座上新发现的等位基因突变，但不排除编码艾杜糖醛酸酶分子亚基的非等位基因突变。
