GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction
| Autor: | Ana Marín-Quílez, Christian A. Di Buduo, Rocío Benito, Alessandra Balduini, José Rivera, Jose Maria Bastida |
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| Jazyk: | angličtina |
| Rok vydání: | 2023 |
| Předmět: | |
| Zdroj: | Platelets, Vol 34, Iss 1 (2023) |
| Druh dokumentu: | article |
| ISSN: | 0953-7104 1369-1635 09537104 |
| DOI: | 10.1080/09537104.2023.2176699 |
| Popis: | GALE gene encodes the uridine diphosphate [UDP]-galactose-4-epimerase, which catalyzes the bidirectional interconversion of UDP-glucose to UDP-galactose, and UDP-N-acetyl-glucosamine to UDP-N-acetyl-galactosamine. In that way, GALE balances, through reversible epimerization, the pool of four sugars that are essential during the biosynthesis of glycoproteins and glycolipids. GALE-related disorder presents an autosomal recessive inheritance pattern, and it is commonly associated with galactosemia. Peripheral galactosemia generally associates with non-generalized forms or even asymptomatic presentations, while classical galactosemia may be related to complications such as learning difficulties, developmental delay, cardiac failure, or dysmorphic features. Recently, GALE variants have been related to severe thrombocytopenia, pancytopenia, and in one patient, to myelodysplastic syndrome. |
| Databáze: | Directory of Open Access Journals |
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