Galactose-1-phosphate in the pathophysiology of galactosemia
| العنوان: | Galactose-1-phosphate in the pathophysiology of galactosemia |
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| المؤلفون: | R. Gitzelmann |
| المصدر: | European Journal of Pediatrics. 154:S45-S49 |
| بيانات النشر: | Springer Science and Business Media LLC, 1995. |
| سنة النشر: | 1995 |
| مصطلحات موضوعية: | Galactosemias, medicine.medical_specialty, Biology, Dephosphorylation, Glycogen phosphorylase, chemistry.chemical_compound, Internal medicine, medicine, Humans, Phosphorylation, Lactose, chemistry.chemical_classification, Futile cycle, Galactosephosphates, Galactosemia, Infant, Newborn, Galactose, medicine.disease, Glucose, Endocrinology, Enzyme, Biochemistry, chemistry, Pediatrics, Perinatology and Child Health, Phosphoglucomutase |
| الوصف: | In galactosemia, galactose-1-phosphate (gal-1-P) is not properly metabolized and accumulates in the fetus and after birth in various tissues when lactose or galactose is ingested. Well-treated galactosemics retain a low level of red cell gal-1-P which increases after breaks of diet. The ester is an indicator of the biogenesis of galactose from glucose and has been considered a pathogenic agent by inhibiting enzymes such as glucose-6-phosphatase, glucose-6-phosphate dehydrogenase, phosphoglucomutase, and glycogen phosphorylase, but the evidence remains presumptive. A futile cycle of galactose phosphorylation and dephosphorylation, and the sequestration of phosphorus in gal-1-P are also suspected to play a role in the pathogenesis of galactosemia. |
| تدمد: | 1432-1076 0340-6199 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10b637d8b806585e1e91ea45b9029138 https://doi.org/10.1007/bf02143803 |
| حقوق: | CLOSED |
| رقم الأكسشن: | edsair.doi.dedup.....10b637d8b806585e1e91ea45b9029138 |
| قاعدة البيانات: | OpenAIRE |
Find this article in full text from Springer Verlag. | تدمد: | 14321076 03406199 |
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