Galactosemias https://greenmedinfo.com/taxonomy/term/2201/all en Arginine might constitute a promising therapeutic agent in classic galactosemia. https://greenmedinfo.com/article/arginine-might-constitute-promising-therapeutic-agent-classic-galactosemia PMID:  JIMD Rep. 2015 Mar 27. Epub 2015 Mar 27. PMID: 25814382 Abstract Title:  Arginine Functionally Improves Clinically Relevant Human Galactose-1-Phosphate Uridylyltransferase (GALT) Variants Expressed in a Prokaryotic Model. Abstract:  Classic galactosemia is a rare genetic disease of the galactose metabolism, resulting from deficient activity of galactose-1-phosphate uridylyltransferase (GALT). The current standard of care is lifelong dietary restriction of galactose, which however fails to prevent the development of long-term complications. Structural-functional studies demonstrated that the most prevalent GALT mutations give rise to proteins with increased propensity to aggregate in solution. Arginine is a known stabilizer of aggregation-prone proteins, having already shown a beneficial effect in other inherited metabolic disorders.Herein we developed a prokaryotic model of galactose sensitivity that allows evaluating in a cellular context the mutations&#039; impact on GALT function, as well as the potential effect of arginine in functionally rescuing clinically relevant variants.This study revealed that some hGALT variants, previously described to exhibit no detectable activity in vitro, actually present residual activity when determined in vivo. Furthermore, it revealed that arginine presents a mutation-specific beneficial effect, particularly on the prevalent p.Q188R and p.K285N variants, which led us to hypothesize that it might constitute a promising therapeutic agent in classic galactosemia. https://greenmedinfo.com/article/arginine-might-constitute-promising-therapeutic-agent-classic-galactosemia#comments Arginine Galactosemias In Vitro Study Thu, 25 Jun 2015 23:44:21 +0000 greenmedinfo 118473 at https://greenmedinfo.com Galactokinase Deficiency Disease https://greenmedinfo.com/disease/galactokinase-deficiency-disease <div class="field field-image"> <div class="field-items"> <div class="field-item odd"> <img class="imagefield imagefield-field_image" width="369" height="450" alt="" src="//cdn.greenmedinfo.com/sites/default/files/Enzyme_9.jpg?1476373610" /> </div> </div> </div> <div class="field field-copyright"> <div class="field-items"> <div class="field-item odd"> Copyright: &lt;a href=&#039;http://www.123rf.com/profile_lukaves&#039;&gt;lukaves / 123RF Stock Photo&lt;/a&gt; </div> </div> </div> <fieldset class="fieldgroup group-facebook-like-info"><legend>Facebook Like Info</legend><div class="field field-facebook-total-count"> <div class="field-items"> <div class="field-item odd"> 0 </div> </div> </div> </fieldset> Galactosemias Tue, 14 Apr 2009 07:18:17 +0000 greenmedinfo 20096 at https://greenmedinfo.com Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease https://greenmedinfo.com/disease/galactose-1-phosphate-uridyl-transferase-deficiency-disease <div class="field field-image"> <div class="field-items"> <div class="field-item odd"> <img class="imagefield imagefield-field_image" width="450" height="450" alt="" src="//cdn.greenmedinfo.com/sites/default/files/Galactose.jpg?1476375149" /> </div> </div> </div> <div class="field field-copyright"> <div class="field-items"> <div class="field-item odd"> Copyright: &lt;a href=&#039;http://www.123rf.com/profile_logos2012&#039;&gt;logos2012 / 123RF Stock Photo&lt;/a&gt; </div> </div> </div> <fieldset class="fieldgroup group-facebook-like-info"><legend>Facebook Like Info</legend><div class="field field-facebook-total-count"> <div class="field-items"> <div class="field-item odd"> 0 </div> </div> </div> </fieldset> Galactosemias Tue, 14 Apr 2009 07:18:18 +0000 greenmedinfo 20098 at https://greenmedinfo.com Harnessing the power of purple sweet potato color and myo-inositol to treat classic galactosemia. https://greenmedinfo.com/article/harnessing-power-purple-sweet-potato-color-and-myo-inositol-treat-classic-gala PMID:  Int J Mol Sci. 2022 Aug 4 ;23(15). Epub 2022 Aug 4. PMID: 35955788 Abstract Title:  Harnessing the Power of Purple Sweet Potato Color and-Inositol to Treat Classic Galactosemia. Abstract:  Classic Galactosemia (CG) is a devastating inborn error of the metabolism caused by mutations in the GALT gene encoding the enzyme galactose-1 phosphate uridylyltransferase in galactose metabolism. Severe complications of CG include neurological impairments, growth restriction, cognitive delays, and, for most females, primary ovarian insufficiency. The absence of the GALT enzyme leads to an accumulation of aberrant galactose metabolites, which are assumed to be responsible for the sequelae. There is no treatment besides the restriction of dietary galactose, which does not halt the development of the complications; thus, additional treatments are sorely needed. Supplements have been used in other inborn errors of metabolism but are not part of the therapeutic regimen for CG. The goal of this study was to test two generally recognized as safe supplements (purple sweet potato color (PSPC) and-inositol (MI)) that may impact cellular pathways contributing to the complications in CG. Our group uses agene-trapped mouse model to study the pathophysiology in CG, which phenocopy many of the complications. Here we report the ability of PSPC to ameliorate dysregulation in the ovary, brain, and liver of our mutant mice as well as positive results of MI supplementation in the ovary and brain. <p><a href="https://greenmedinfo.com/article/harnessing-power-purple-sweet-potato-color-and-myo-inositol-treat-classic-gala" target="_blank">read more</a></p> https://greenmedinfo.com/article/harnessing-power-purple-sweet-potato-color-and-myo-inositol-treat-classic-gala#comments Galactosemias Myo-inositol Antioxidants Animal Study Fri, 09 Sep 2022 20:49:17 +0000 greenmedinfo 263139 at https://greenmedinfo.com The addition of purple sweet potatoes into diets could help patients with galactosemia. https://greenmedinfo.com/article/addition-purple-sweet-potatoes-diets-could-help-patients-galactosemia PMID:  Int J Food Sci Nutr. 2014 Jun ;65(4):391-3. Epub 2013 Nov 26. PMID: 24279733 Abstract Title:  Purple sweet potato colour--a potential therapy for galactosemia? Abstract:  Galactosemia is an inherited metabolic disease in which galactose is not properly metabolised. There are various theories to explain the molecular pathology, and recent experimental evidence strongly suggests that oxidative stress plays a key role. High galactose diets are damaging to experimental animals and oxidative stress also plays a role in this toxicity which can be alleviated by purple sweet potato colour (PSPC). This plant extract is rich in acetylated anthocyanins which have been shown to quench free radical production. The objective of this Commentary is to advance the hypothesis that PSPC, or compounds therefrom, may be a viable basis for a novel therapy for galactosemia. https://greenmedinfo.com/article/addition-purple-sweet-potatoes-diets-could-help-patients-galactosemia#comments Anthocyanins Galactosemias Oxidative Stress Sweet Potato: Purple Antioxidants Phytotherapy Plant Extracts Commentary Thu, 25 Jun 2015 23:29:21 +0000 greenmedinfo 118472 at https://greenmedinfo.com UDPglucose 4-Epimerase Deficiency Disease https://greenmedinfo.com/disease/udpglucose-4-epimerase-deficiency-disease <div class="field field-image"> <div class="field-items"> <div class="field-item odd"> <img class="imagefield imagefield-field_image" width="450" height="338" alt="" src="//cdn.greenmedinfo.com/sites/default/files/Genes_217.jpg?1488395834" /> </div> </div> </div> <div class="field field-copyright"> <div class="field-items"> <div class="field-item odd"> Copyright: &lt;a href=&#039;http://www.123rf.com/profile_nobeastsofierce&#039;&gt;nobeastsofierce / 123RF Stock Photo&lt;/a&gt; </div> </div> </div> <fieldset class="fieldgroup group-facebook-like-info"><legend>Facebook Like Info</legend><div class="field field-facebook-total-count"> <div class="field-items"> <div class="field-item odd"> 0 </div> </div> </div> </fieldset> Galactosemias Tue, 14 Apr 2009 07:27:40 +0000 greenmedinfo 22363 at https://greenmedinfo.com UDPglucose-Hexose-1-Phosphate Uridylyltransferase Deficiency https://greenmedinfo.com/disease/udpglucose-hexose-1-phosphate-uridylyltransferase-deficiency <div class="field field-image"> <div class="field-items"> <div class="field-item odd"> <img class="imagefield imagefield-field_image" width="450" height="450" alt="" src="//cdn.greenmedinfo.com/sites/default/files/Galactose_1.jpg?1488400650" /> </div> </div> </div> <div class="field field-copyright"> <div class="field-items"> <div class="field-item odd"> Copyright: &lt;a href=&#039;http://www.123rf.com/profile_logos2012&#039;&gt;logos2012 / 123RF Stock Photo&lt;/a&gt; </div> </div> </div> <fieldset class="fieldgroup group-facebook-like-info"><legend>Facebook Like Info</legend><div class="field field-facebook-total-count"> <div class="field-items"> <div class="field-item odd"> 0 </div> </div> </div> </fieldset> Galactosemias Tue, 14 Apr 2009 07:27:40 +0000 greenmedinfo 22364 at https://greenmedinfo.com