{"id":21183,"date":"2024-12-18T11:11:50","date_gmt":"2024-12-18T10:11:50","guid":{"rendered":"https:\/\/cabd.es\/a-promising-treatment-for-type-iii-galactosemia-based-on-simple-sugars-has-been-discovered-2\/"},"modified":"2026-06-10T15:26:36","modified_gmt":"2026-06-10T14:26:36","slug":"a-promising-treatment-for-type-iii-galactosemia-based-on-simple-sugars-has-been-discovered-2","status":"publish","type":"post","link":"https:\/\/cabd.es\/en\/a-promising-treatment-for-type-iii-galactosemia-based-on-simple-sugars-has-been-discovered-2\/","title":{"rendered":"A promising treatment for type III galactosemia based on simple sugars has been discovered"},"content":{"rendered":"

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Scientific advances<\/p>\n

A promising treatment for type III galactosemia based on simple sugars has been discovered<\/h1>\n

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The research group led by Manuel J. Mu\u00f1oz, professor of Pablo de Olavide University and researcher at the Andalusian Center for Developmental Biology, reveals that sugars improve the symptoms of this rare metabolic disease in animal models.<\/h4>\n

\"\"The research group ‘Genetics of longevity in Caenorhabditis elegans’ (BIO373), led by Pablo de Olavide University professor Manuel J. Mu\u00f1oz at the Andalusian Center for Developmental Biology (CABD), has identified a key finding for the treatment of type III galactosemia, an extremely rare metabolic disease. The research, recently published in Biomedicine & Pharmacotherapy, demonstrates how treatment with simple sugars can significantly improve the symptoms of this disease in animal models.<\/p>\n

Type III galactosemia is characterized by a deficiency of the GALE protein, which is responsible for degrading galactose and participating in the production of UDP-sugars, molecules essential for regulating the activity of cellular proteins. Affected individuals are intolerant to small amounts of galactose and develop serious problems such as deafness, cataracts, developmental delay and even lethal consequences in severe cases.<\/p>\n

A key discovery in a model of Caenorhabditis elegans<\/p>\n

Manuel J. Mu\u00f1oz’s team had previously developed a model of the disease in the nematode Caenorhabditis elegans that mimics the symptoms of type III galactosemia. During these studies, researcher Ana Mar\u00eda Brokate observed that the condition of the nematodes improved with certain diets. Subsequently, PhD student Patricia Lucas-Rodriguez identified that the most beneficial effects occurred on diets with high levels of simple sugars. Surprisingly, adding these sugars to any diet significantly improved symptoms.<\/p>\n

The team observed that GALE protein levels are regulated by the insulin pathway and that when insulin is activated by the presence of sugar, the amount of GALE protein increases. In healthy individuals, this increase is of no consequence, but in those with low levels of GALE, as is the case in type III galactosemia, this increase is essential to alleviate symptoms.
Conservation of the mechanism in mouse models<\/p>\n

In collaboration with the group of the UPO Physiology Department professor \u00c1ngel Carri\u00f3n, the research team demonstrated that the beneficial effect of sugar is also observed in mice, suggesting that this mechanism could be evolutionarily conserved in humans. In addition, an increase in blood GALE was observed in the treated mice, a relevant data that would allow simple and rapid monitoring of the efficacy of the treatment in patients.<\/p>\n

Therapeutic potential and precautions<\/p>\n

The preclinical results are very promising, since treatment with simple sugars is a relatively simple, inexpensive and non-pharmacological intervention. However, the researchers caution that this type of treatment should be supervised by medical professionals, as excessive consumption of sugars could lead to risks such as diabetes or obesity.<\/p>\n

This study represents a significant advance in the treatment of type III galactosemia, a disease for which there are currently no effective therapies. The data obtained open the door to future clinical trials in humans and position this intervention as a promising and easily monitored alternative.<\/p>\n

Lucas-Rodr\u00edguez P, Brokate-Llanos AM, Hernandez-Curiel JM, Murdoch PDS, Garz\u00f3n A, Carri\u00f3n A, Mu\u00f1oz MJ.\u00a0<\/span>Monosaccharides improve symptoms of an animal model for type III galactosemia, through the activation of the insulin pathway<\/b>.\u00a0Biomed Pharmacother<\/span><\/i>. 2024 Nov 15;181:117677.\u00a0<\/span>doi: 10.1016\/j.biopha.2024.117677<\/a><\/p>\n

This press release was written in collaboration with the comunication unit of UPO.<\/strong><\/p>\n

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