Alonzo-Rojo A, García-Ortiz J E, Ortiz-Aranda M, Gallegos-Arreola M P, Figuera-Villanueva L E
Genetics Department, Western Biomedical Research Center, , , México.
Centro Universitario de Ciencias de la Salud, , , México.
Genet Mol Res. 2017 Sep 21;16(3):gmr-16-03-gmr.16032602. doi: 10.4238/gmr16032602.
Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive lysosomal storage disorder caused by a deficiency or absence of α--iduronidase, which is involved in the catabolism of glycosaminoglycans (GAGs). This deficiency leads to the accumulation of GAGs in several organs. Given the wide spectrum of the disease, MPS-I has historically been classified into 3 clinical subtypes - severe (Hurler syndrome), intermediate (Hurler-Scheie syndrome), and mild (Scheie syndrome) - none of which is determined by residual enzyme activity. Eleven Mexican patients with MPS-I from northwestern México were evaluated. Diagnoses were confirmed through quantification of GAGs in urine and enzyme assay for α--iduronidase. Regardless of phenotype, all patients had various degrees of infiltrated facies, short stature, dysostosis multiplex, joint contractures, and corneal opacity typical of the disease. A better understanding of the spectrum of this disease can assist in diagnosis, treatment, and improvement in the quality of life for these patients.
I型黏多糖贮积症（MPS-I）是一种常染色体隐性溶酶体贮积病，由α-L-艾杜糖醛酸酶缺乏或缺失引起，该酶参与糖胺聚糖（GAGs）的分解代谢。这种缺乏导致GAGs在多个器官中积累。鉴于该疾病的广泛谱系，MPS-I在历史上被分为3种临床亚型——重型（Hurler综合征）、中间型（Hurler-Scheie综合征）和轻型（Scheie综合征）——其中没有一种是由残余酶活性决定的。对来自墨西哥西北部的11例MPS-I患者进行了评估。通过尿液中GAGs的定量和α-L-艾杜糖醛酸酶的酶活性测定确诊。无论表型如何，所有患者都有不同程度的浸润面容、身材矮小、多发性骨发育异常、关节挛缩和角膜混浊，这些都是该疾病的典型症状。更好地了解这种疾病的谱系有助于这些患者的诊断、治疗和生活质量的改善。
