The investigation of UDPGlucose and UDPGalactose concentration in red blood cells of patients with classical galactosaemia
| Autor: | Nicola J. Keevill, J. T. Allen, J.B. Holton |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
Adult
Galactosemias Uridine Diphosphate Glucose medicine.medical_specialty Erythrocytes Adolescent Clinical Biochemistry Nucleotide sugar Biochemistry Cofactor Uridine Diphosphate Galactose chemistry.chemical_compound Glycolipid Reference Values Internal medicine medicine Humans Child Chromatography High Pressure Liquid chemistry.chemical_classification biology Biochemistry (medical) Galactosemia Infant Newborn Infant General Medicine Carbohydrate medicine.disease Red blood cell Enzyme medicine.anatomical_structure Endocrinology chemistry Child Preschool Galactose biology.protein |
| Zdroj: | Clinica Chimica Acta. 221:135-142 |
| ISSN: | 0009-8981 |
| DOI: | 10.1016/0009-8981(93)90028-3 |
| Popis: | UDPGlucose (UDPGlc) and UDPGalactose (UDPGal) are nucleotide sugars formed via the galactose metabolic pathway and are essential cofactors for the incorporation of galactose and glucose into complex glycoproteins and glycolipids. It has been proposed that in classical galactosaemia, where the enzyme galactose-1-phosphate uridyl transferase is deficient, the reaction product UDPGal is reduced leading to the long-term complications associated with the disease. We have measured the concentration of UDPGal and UDPGlc in red blood cells by high performance liquid chromatography (HPLC) in 16 children and 15 adult galactosaemics and compared the results with 30 and 27 control children and adults, respectively. The results indicate that UDPGal levels were found to be significantly reduced in galactosaemic patients and UDPGlc/UDPGal ratios significantly increased. |
| Databáze: | OpenAIRE |
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