Article
Food Science & Technology
Loai A. Shakerdi, Leonie Wallace, Georgina Smyth, Nora Madden, Anne Clark, Una Hendroff, Marianne McGovern, Sarah Connellan, Barbara Gillman, Eileen P. Treacy
Summary: Classical galactosemia is a metabolic disorder caused by the deficiency of an enzyme, requiring lifelong restriction of dietary galactose. Moderate liberalization of galactose restriction may improve glycosylation and strict restriction of nondairy galactose may have unfavorable outcomes. This study analyzed lactose and galactose content in various foods in Ireland, providing information to support the development of practical dietary strategies for people with galactosemia.
FOOD SCIENCE & NUTRITION
(2022)
Article
Biochemistry & Molecular Biology
Anna Verdino, Gaetano D'Urso, Carmen Tammone, Bernardina Scafuri, Lucrezia Catapano, Anna Marabotti
Summary: Classic galactosemia is a metabolic disorder caused by mutations in the GALT enzyme. Current treatments, including dietary restrictions, do not effectively prevent or alleviate long-term complications in patients. Research on the potential of arginine to act as a pharmacochaperone for GALT has shown mixed results, with limited clinical evidence to support its efficacy.
Review
Nutrition & Dietetics
Ioana Badiu Tisa, Anca Cristina Achim, Anamaria Cozma-Petrut
Summary: Galactosemia is an inborn metabolic disorder caused by a deficiency in galactose metabolism enzymes. Early diagnosis and treatment can avoid negative health consequences, and neonatal screening can promote early diagnosis and intervention, preventing complications.
Article
Endocrinology & Metabolism
Merel E. Hermans, Michel van Weeghel, Frederic M. Vaz, Sacha Ferdinandusse, Carla E. M. Hollak, Hidde H. Huidekoper, Mirian C. H. Janssen, Andre B. P. van Kuilenburg, Mia L. Pras-Raves, Mirjam M. C. Wamelink, Ronald J. A. Wanders, Mendy M. Welsink-Karssies, Annet M. Bosch
Summary: Classical galactosemia is a common metabolic disorder that leads to intellectual disability and movement disorders. In this study, metabolomics and lipidomics analysis revealed that the disease affects multiple metabolic pathways and compromises the energy status of cells.
JOURNAL OF INHERITED METABOLIC DISEASE
(2022)
Article
Chemistry, Medicinal
Pedro Gama, Ruben D. Cadena-Nava, Karla Juarez-Moreno, Javier Perez-Robles, Rafael Vazquez-Duhalt
Summary: Enzymatic nanoreactors were created by encapsulating galactose-1-phosphate uridylyl-transferase (GALT) into plant virus capsids through a molecular self-assembly strategy, with the aim of developing a potential treatment for classic galactosemia. The nanoreactors showed slightly lower substrate affinity and a 16% activity rate compared to the free enzyme, and were efficiently internalized into various cells, particularly hepatocytes. This innovative enzyme preparation has promising applications in the treatment of classic galactosemia.
Article
Chemistry, Medicinal
Diana del Rosario-Santana, Rafael R. Robaina, Pilar Garcia-Jimenez
Summary: The synthesis of cell-wall sulfated galactans and ethylene in red seaweed is influenced by UDP galactose, sulfate transporters, and S-adenosyl methionine. Methionine increases the transcript number of genes encoding S-transporters and assimilation, while reducing the transcript levels of PGM and GALT. However, it does not affect the transcript number of carbohydrate sulfotransferase and galactose-6-sulfurylase.
Article
Chemistry, Medicinal
Li Liu, Manshu Tang, Rajan Pragani, Frank G. Whitby, Ya-qin Zhang, Bijina Balakrishnan, Yuhong Fang, Surendra Karavadhi, Dingyin Tao, Christopher A. LeClair, Matthew D. Hall, Juan J. Marugan, Matthew Boxer, Min Shen, Christopher P. Hill, Kent Lai, Samarjit Patnaik
Summary: A highly selective dihydropyrimidine inhibitor against GALK1 has been identified for the treatment of classic galactosemia.
JOURNAL OF MEDICINAL CHEMISTRY
(2021)
Article
Environmental Sciences
Diana Del Rosario-Santana, Rafael Robaina, Pilar Garcia-Jimenez
Summary: In this study, changes in cell wall sulfated galactans in Grateloupia imbricata were monitored after rapid induction of cystocarp maturation and carpospore development by the volatile hormone methyl jasmonate (MEJA). The synthesis of sulfated galactans was followed by gene expression analysis, and structural changes were analyzed using FTIR spectra. The results showed downregulation of key genes involved in cell wall synthesis, and alterations in the FTIR spectrum confirmed the induction of haploid spores by MEJA.
FRONTIERS IN MARINE SCIENCE
(2023)
Article
Obstetrics & Gynecology
Britt Derks, Greysha Rivera-Cruz, Synneva Hagen-Lillevik, E. Naomi Vos, Didem Demirbas, Kent Lai, Eileen P. Treacy, Harvey L. Levy, Louise E. Wilkins-Haug, M. Estela Rubio-Gozalbo, Gerard T. Berry
Summary: This study reviews the clinical presentation of classic galactosemia (CG) and the need for reevaluating fertility counseling; advances in understanding the molecular mechanisms of early ovarian damage; and current treatments to mitigate ovarian damage. The study is of great importance for understanding the pathogenesis of the disease and exploring new treatment options.
HUMAN REPRODUCTION UPDATE
(2023)
Article
Medicine, General & Internal
Jimmy T. Mitchell, Eric B. Johnson
Summary: We investigated the clinical application of uncertain significance variants (VUS) in the galactose-1-phosphate uridylyltransferase (GALT) gene. Our experimental results showed that these variants significantly affected enzymatic activity and were inconsistent with the predictions based on in silico modeling.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2023)
Review
Health Care Sciences & Services
Britt Delnoy, Ana I. Coelho, Maria Estela Rubio-Gozalbo
Summary: Type I classical galactosemia is a hereditary disorder caused by a deficiency of galactose 1-phosphate uridylyltransferase (GALT). The current standard of care, a galactose-restricted diet, is effective but not sufficient in preventing complications. New therapeutic approaches aim to restore GALT activity, influence the cascade of events, and address the clinical picture. Further research is needed to fully understand the precise pathophysiology of the disease.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Anna Verdino, Gaetano D'Urso, Carmen Tammone, Bernardina Scafuri, Anna Marabotti
Summary: The third step of galactose catabolism in mammals is catalyzed by the enzyme GALT, mutations of which are associated with classic galactosemia. Molecular dynamics simulations showed the importance of intersubunit interactions for enzyme activity, providing potential insights for therapeutic interventions.
Article
Endocrinology & Metabolism
Suha Daas, Nasser Abu Salah, Yair Anikster, Ortal Barel, Nadirah S. Damseh, Elena Dumin, Aviva Fattal-Valevski, Tzipora C. Falik-Zaccai, Clair Habib, Sagi Josefsberg, Stanley H. Korman, Katya Kneller, Yuval Landau, Tally Lerman-Sagie, Hanna Mandel, Yehoshua Manor, Tameemi Moady Abdalla, Rachel Rock, Nira Rostami, Ann Saada, Talya Saraf-Levy, Nava Shaul Lotan, Ronen Spiegel, Orna Staretz-Chacham, Galit Tal, Igor Ulanovsky, Taly Vaisid, Yael Wilnai, Shlomo Almashanu
Summary: Galactosemia is an inborn disorder of carbohydrate metabolism. Israeli newborn screening algorithm for galactosemia includes measurement of galactose-1-phosphate as the first-tier screening test and GALT enzyme activity as the second-tier test.
JOURNAL OF INHERITED METABOLIC DISEASE
(2023)
Review
Pediatrics
Celenia Godoy-Salgado, Alejandra Sabillon-Mendoza, Flora Zarate-Mondragon, Erick Toro-Monjaraz, Jose Cadena-Leon, Karen Ignorosa-Arellano, Alejandro Loredo-Mayer, Roberto Cervantes-Bustamante, Jaime Ramirez-Mayans
Summary: Galactosemia is an inherited disorder caused by poor activity in one of the enzymes in the Leloir pathway, with GALT deficiency being the most severe form. Clinical symptoms can be alleviated by restricting galactose intake, but long-term complications such as cognitive and reproductive deficiencies may still occur. Early detection and management are crucial in preventing these complications.
ACTA PEDIATRICA DE MEXICO
(2021)
Article
Genetics & Heredity
Irem Kalay, Cagri Gulec, Mehmet Cihan Balci, Guven Toksoy, Gulden Gokcay, Seher Basaran, Mubeccel Demirkol, Zehra Oya Uyguner
Summary: This study identified 18 different sequence variants, including four novel variants, in 77 patients with classic galactosemia. The most common short-term finding was jaundice, while intellectual disability was one of the most common long-term complications. Patients with biallelic missense variants had a significantly higher prevalence of cataracts.
ANNALS OF HUMAN GENETICS
(2023)