Genistein Supplementation in Patients Affected by Sanfilippo Disease

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 2011 May 11

PMID 21556833

Citations 30

Authors

Veronica Delgadillo

Maria Del Mar OCallaghan

Rafael Artuch

Raquel Montero

Mercedes Pineda

Affiliations

Soon will be listed here.

Abstract

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.

Citing Articles

Current Concepts in the Management of Sanfilippo Syndrome (MPS III): A Narrative Review.

Alyazidi A, Muthaffar O, Baaishrah L, Shawli M, Jambi A, Aljezani M Cureus. 2024; 16(4):e58023.

PMID: 38738088 PMC: 11087936. DOI: 10.7759/cureus.58023.

-Substituted l-Iminosugars for the Treatment of Sanfilippo Type B Syndrome.

De Pasquale V, Esposito A, Scerra G, Scarcella M, Ciampa M, Luongo A J Med Chem. 2023; 66(3):1790-1808.

PMID: 36696678 PMC: 9923752. DOI: 10.1021/acs.jmedchem.2c01617.

Murine Fibroblasts and Primary Hepatocytes as Tools When Studying the Efficacy of Potential Therapies for Mucopolysaccharidosis Type I.

Wesierska M, Nowicka W, Kloska A, Jakobkiewicz-Banecka J, Malinowska M Int J Mol Sci. 2023; 24(1).

PMID: 36613977 PMC: 9820816. DOI: 10.3390/ijms24010534.

Activities of (Poly)phenolic Antioxidants and Other Natural Autophagy Modulators in the Treatment of Sanfilippo Disease: Remarkable Efficacy of Resveratrol in Cellular and Animal Models.

Rintz E, Podlacha M, Cyske Z, Pierzynowska K, Wegrzyn G, Gaffke L Neurotherapeutics. 2022; 20(1):254-271.

PMID: 36344724 PMC: 10119361. DOI: 10.1007/s13311-022-01323-7.

Current and Future Treatment of Mucopolysaccharidosis (MPS) Type II: Is Brain-Targeted Stem Cell Gene Therapy the Solution for This Devastating Disorder?.

Horgan C, Jones S, Bigger B, Wynn R Int J Mol Sci. 2022; 23(9).

PMID: 35563245 PMC: 9105950. DOI: 10.3390/ijms23094854.

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