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https://www.um.edu.mt/library/oar/handle/123456789/145686| Title: | Dihydropteridine reductase deficiency accounts for all phenylketonuria in the Maltese population |
| Authors: | Farrugia, Rosienne Dianzani, I. Attard Montalto, S. Felice, A. E. |
| Keywords: | Phenylketonurias -- Malta Amino acids -- Metabolism -- Disorders -- Malta DNA Genetics |
| Issue Date: | 2000 |
| Publisher: | John Wiley & Sons Ltd. |
| Citation: | Farrugia, R., Dianzani, I., Attard Montalto, S., & Felice, A. E. (2000). Dihydropteridine reductase deficiency accounts for all phenylketonuria in the Maltese population. Journal of Inherited Metabolic Diseases, 23(Suppl. 1), p. 44. |
| Abstract: | Phenylketonuria (PKU) is a rare disorder of phenylalanine metabolism, generally with an occurrence of 1 in 1000 live births. Dihydropteridine reductase (QDPR) deficiency is a rare form of PKU found in 2% of hyperphenylalaninaemia patients. In the last five years 3 probands have been identified. All are under 4 years of age and are not in any way related. The aim of this study was to identify the causative mutation in the probands and their family members, and use the information obtained to investigate the occurrence of QDPR deficiency in the Maltese population. |
| URI: | https://www.um.edu.mt/library/oar/handle/123456789/145686 |
| Appears in Collections: | Scholarly Works - FacHScABS |
Files in This Item:
| File | Description | Size | Format | |
|---|---|---|---|---|
| Dihydropteridine_reductase_deficiency_accounts_for_all_phenylketonuria_in_the_Maltese_population_2000.pdf | 44.62 kB | Adobe PDF | View/Open |
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