BACKGROUND: 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. OBJECTIVE: The aim of this study was to assess the effectiveness and potential side effects of genistein supplementation in MPS III patients. METHODS: 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. RESULTS: 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. CONCLUSION: Our results suggest that genistein supplementation at 5 mg kg(-1) day(-1) did not improve disability estimated by using a particular scale.
BACKGROUND: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. OBJECTIVE: The aim of this study was to assess the effectiveness and potential side effects of genistein supplementation in MPS IIIpatients. METHODS: 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. RESULTS: 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. CONCLUSION: Our results suggest that genistein supplementation at 5 mg kg(-1) day(-1) did not improve disability estimated by using a particular scale.
Authors: T Akiyama; J Ishida; S Nakagawa; H Ogawara; S Watanabe; N Itoh; M Shibuya; Y Fukami Journal: J Biol Chem Date: 1987-04-25 Impact factor: 5.157
Authors: Marcelina Malinowska; Fiona L Wilkinson; Kia J Langford-Smith; Alex Langford-Smith; Jillian R Brown; Brett E Crawford; Marie T Vanier; Grzegorz Grynkiewicz; Rob F Wynn; J Ed Wraith; Grzegorz Wegrzyn; Brian W Bigger Journal: PLoS One Date: 2010-12-01 Impact factor: 3.240
Authors: Marcelina Malinowska; Fiona L Wilkinson; William Bennett; Kia J Langford-Smith; H Angharad O'Leary; Joanna Jakobkiewicz-Banecka; Rob Wynn; J Ed Wraith; Grzegorz Wegrzyn; Brian W Bigger Journal: Mol Genet Metab Date: 2009-06-27 Impact factor: 4.797
Authors: LeAnne T Bloedon; A Robert Jeffcoat; Wlodek Lopaczynski; Michael J Schell; Tracy M Black; Kelly J Dix; Brian F Thomas; Craig Albright; Marjorie G Busby; James A Crowell; Steven H Zeisel Journal: Am J Clin Nutr Date: 2002-11 Impact factor: 7.045
Authors: Ewa Piotrowska; Joanna Jakóbkiewicz-Banecka; Anna Tylki-Szymanska; Anna Liberek; Agnieszka Maryniak; Marcelina Malinowska; Barbara Czartoryska; Ewa Puk; Anna Kloska; Tomasz Liberek; Sylwia Baranska; Alicja Wegrzyn; Grzegorz Wegrzyn Journal: Curr Ther Res Clin Exp Date: 2008-04
Authors: Shunji Tomatsu; Eriko Yasuda; Pravin Patel; Kristen Ruhnke; Tsutomu Shimada; William G Mackenzie; Robert Mason; Mihir M Thacker; Mary Theroux; Adriana M Montaño; Carlos J Alméciga-Díaz; Luis A Barrera; Yasutsugu Chinen; William S Sly; Daniel Rowan; Yasuyuki Suzuki; Tado Orii Journal: Pediatr Endocrinol Rev Date: 2014-09
Authors: Dèlia Yubero; Raquel Montero; Mar O'Callaghan; Mercè Pineda; Silvia Meavilla; Veronica Delgadillo; Cristina Sierra; Laura Altimira; Plácido Navas; Simon Pope; Marcus Oppenheim; Viruna Neergheen; Arunabha Ghosh; Phillipa Mills; Peter Clayton; Emma Footitt; Maureen Cleary; Iain Hargreaves; Simon A Jones; Simon Heales; Rafael Artuch Journal: JIMD Rep Date: 2015-07-24
Authors: J de Ruijter; L Ijlst; W Kulik; H van Lenthe; T Wagemans; N van Vlies; F A Wijburg Journal: J Inherit Metab Dis Date: 2012-09-12 Impact factor: 4.982
Authors: Sandra D K Kingma; Tom Wagemans; Lodewijk IJlst; Frits A Wijburg; Naomi van Vlies Journal: J Inherit Metab Dis Date: 2014-04-04 Impact factor: 4.982
Authors: William C Lamanna; Roger Lawrence; Stéphane Sarrazin; Carlos Lameda-Diaz; Philip L S M Gordts; Kelley W Moremen; Jeffrey D Esko Journal: J Biol Chem Date: 2012-09-05 Impact factor: 5.157
Authors: Marta Moskot; Sandro Montefusco; Joanna Jakóbkiewicz-Banecka; Paweł Mozolewski; Alicja Węgrzyn; Diego Di Bernardo; Grzegorz Węgrzyn; Diego L Medina; Andrea Ballabio; Magdalena Gabig-Cimińska Journal: J Biol Chem Date: 2014-04-25 Impact factor: 5.157