Neuropediatrics Department, Hospital Sant Joan de Déu, Barcelona, Spain.
J Inherit Metab Dis. 2011 Oct;34(5):1039-44. doi: 10.1007/s10545-011-9342-4. Epub 2011 May 10.
Mucopolysaccharidosis type III (Sanfilippo syndrome) is a group of autosomal recessive disorders caused by a deficiency in one of the four enzymes involved in the lysosomal degradation of heparan sulfate. Genistein supplementation has been proposed as a potential therapy for the reduction of substrates in patients with these disorders.
The aim of this study was to assess the effectiveness and potential side effects of genistein supplementation in MPS III patients.
Open-label study, with 19 children (10 males and 9 females) enrolled with confirmed diagnosis of MPS III (age range 2.8-19 years). Patients were supplemented with genistein (5 mg kg(-1) day(-1)) for 1 year. Clinical evaluation, hair morphology, urinary glycosaminoglycan analysis, study of nutritional parameters, and other routine biochemical tests were performed.
We did not observe an improvement in the disability scale; after genistein treatment, in most patients there was an increased disability score or it remained unchanged. There was a relative decrease in the recurrence of infections and gastrointestinal symptoms, as well as improvement in skin texture and hair morphology. Glycosaminoglycan levels were above normal at all control points and showed great variability in their elimination.
Our results suggest that genistein supplementation at 5 mg kg(-1) day(-1) did not improve disability estimated by using a particular scale.
黏多糖贮积症 III 型（Sanfilippo 综合征）是一组常染色体隐性遗传病，由溶酶体降解硫酸乙酰肝素过程中四种酶中的任何一种缺乏引起。大豆异黄酮补充剂已被提议作为减少这些疾病患者底物的潜在治疗方法。
本研究旨在评估大豆异黄酮补充剂在 MPS III 患者中的有效性和潜在副作用。
开放标签研究，纳入 19 名确诊为 MPS III 的儿童（男 10 名，女 9 名；年龄 2.8-19 岁）。患者接受大豆异黄酮（5mg/kg/天）治疗 1 年。进行临床评估、毛发形态学、尿糖胺聚糖分析、营养参数研究以及其他常规生化测试。
我们没有观察到残疾量表的改善；在大豆异黄酮治疗后，大多数患者的残疾评分增加或保持不变。感染和胃肠道症状的复发相对减少，皮肤质地和毛发形态得到改善。糖胺聚糖水平在所有对照点均高于正常水平，其消除具有很大的可变性。
我们的结果表明，5mg/kg/天的大豆异黄酮补充剂并未改善使用特定量表估计的残疾程度。
