Galactosemia: diagnosis and treatment
| Autor: | Nakisa Serafinceanu, I C Cucu, C Serafinceanu |
|---|---|
| Rok vydání: | 2012 |
| Předmět: | |
| Zdroj: | Romanian Journal of Diabetes Nutrition and Metabolic Diseases. 19:215-218 |
| ISSN: | 2284-6417 2068-8245 |
| DOI: | 10.2478/v10255-012-0026-0 |
| Popis: | Galactosemia is a hereditary metabolic disease, having autosomal recessivetransmission. It can be the result of three distinct enzyme deficits on the path ofgalactose metabolism: Galactose-1-phosphate uridylyltransferase (GALT),Galactokinase and UDP-glucose 4-epimerase (GALE). The symptoms and signsappear in the first 2-3 days of life and has a poor prognosis: repeated haemorrhages,modified liver tests, hepatosplenomegaly, jaundice, sistemic infections, especiallywith gram-negative bacteria (usually E coli), liver and renal failure, cataract. Thenewborn metabolic screening plays a decisive role in early detection ofgalactosemia. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|