| Autor: |
Beatriz Ugalde-Abiega, Sinziana Stanescu, Amaya Belanger, Mercedes Martinez-Pardo, Francisco Arrieta |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Journal of Medical Case Reports, Vol 17, Iss 1, Pp 1-5 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
1752-1947 |
| DOI: |
10.1186/s13256-023-04209-0 |
| Popis: |
Abstract Background Phenylketonuria (PKU) is an autosomal recessive disease that belongs to a group of disorders resulting from inborn errors of protein metabolism. It was the first disease included in neonatal screening. Neonatal screening has allowed an early diagnosis and treatment of the disease. As a result, an increasing number of women diagnosed with phenylketonuria have reached the reproductive phase of life in good health, and management of pregnancy in women with PKU is becoming more frequent. Case presentation In this study, we report the case of a 28-year-old Caucasian patient being followed up for phenylketonuria at Ramón y Cajal Hospital’s Metabolic Diseases Unit. We describe the patient’s gestation, impacted by her and her partner’s diagnosis of PKU, classic and mild phenotypes, respectively, resulting in the fetus affectation. Conclusions The description of PKU management—diagnosis, follow-up, and treatment—for both that of patient and that of the gestation with fetus affectation covers a wide sample scenario that shows the effectiveness of pregnancy planning and monitoring of females with PKU and questions the need to carry out a genetic study of gene PKU in the study of fertility. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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