The multifaceted challenges faced by women in the field of inherited metabolic disorders
Abstract Inherited metabolic disorders (IMDs) are heritable conditions that affect up to 125:100,000 people worldwide. In addition to severe disabling forms that require continuous and costly assistance in both pediatric and adult patients, some IMDs can have mild forms, with the first clinical sign...
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| Format: | Article |
| Language: | English |
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BMC
2025-03-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-025-03604-8 |
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| author | Livia Lenzini Sara Bianconi Giorgia Gugelmo Vincenza Gragnaniello Simone Messerotti Benvenuti Gian Paolo Fadini Nicola Vitturi |
| author_facet | Livia Lenzini Sara Bianconi Giorgia Gugelmo Vincenza Gragnaniello Simone Messerotti Benvenuti Gian Paolo Fadini Nicola Vitturi |
| author_sort | Livia Lenzini |
| collection | DOAJ |
| description | Abstract Inherited metabolic disorders (IMDs) are heritable conditions that affect up to 125:100,000 people worldwide. In addition to severe disabling forms that require continuous and costly assistance in both pediatric and adult patients, some IMDs can have mild forms, with the first clinical signs starting in adolescence or very late in adulthood. In the complex field of IMDs, featuring multifaceted challenges that span from scientific discoveries to patient care, women play a central role in contributing to clinical practice, research, patient advocacy, care, and education. In this narrative review, we focused on the involvement of women in the field of IMDs, highlighting not only their extensive contributions but also the undervaluation of the psychological and emotional tolls paid by women dealing with these diseases. Moreover, from a female-centered perspective, we explored the condition of an adult patient with an IMD to highlight the importance of changing the current approach to the clinical management of these diseases toward a more gender-focused approach. |
| format | Article |
| id | doaj-art-f79d635a17eb4b3daeca99f3f81f397d |
| institution | DOAJ |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-03-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-f79d635a17eb4b3daeca99f3f81f397d2025-08-20T03:05:49ZengBMCOrphanet Journal of Rare Diseases1750-11722025-03-012011610.1186/s13023-025-03604-8The multifaceted challenges faced by women in the field of inherited metabolic disordersLivia Lenzini0Sara Bianconi1Giorgia Gugelmo2Vincenza Gragnaniello3Simone Messerotti Benvenuti4Gian Paolo Fadini5Nicola Vitturi6Division of Metabolic Diseases, Department of Medicine, Padova University Hospital, University of PadovaHospital Psychology Unit, Padua University HospitalDivision of Metabolic Diseases, Department of Medicine, Padova University Hospital, University of PadovaDivision of Inherited Metabolic Diseases, Department of Women’s and Children’s Health, Padova University Hospital, University of PadovaDepartment of General Psychology, University of PadovaDivision of Metabolic Diseases, Department of Medicine, Padova University Hospital, University of PadovaDivision of Metabolic Diseases, Department of Medicine, Padova University Hospital, University of PadovaAbstract Inherited metabolic disorders (IMDs) are heritable conditions that affect up to 125:100,000 people worldwide. In addition to severe disabling forms that require continuous and costly assistance in both pediatric and adult patients, some IMDs can have mild forms, with the first clinical signs starting in adolescence or very late in adulthood. In the complex field of IMDs, featuring multifaceted challenges that span from scientific discoveries to patient care, women play a central role in contributing to clinical practice, research, patient advocacy, care, and education. In this narrative review, we focused on the involvement of women in the field of IMDs, highlighting not only their extensive contributions but also the undervaluation of the psychological and emotional tolls paid by women dealing with these diseases. Moreover, from a female-centered perspective, we explored the condition of an adult patient with an IMD to highlight the importance of changing the current approach to the clinical management of these diseases toward a more gender-focused approach.https://doi.org/10.1186/s13023-025-03604-8Inherited metabolic disordersGender-based medicineCare-giver |
| spellingShingle | Livia Lenzini Sara Bianconi Giorgia Gugelmo Vincenza Gragnaniello Simone Messerotti Benvenuti Gian Paolo Fadini Nicola Vitturi The multifaceted challenges faced by women in the field of inherited metabolic disorders Orphanet Journal of Rare Diseases Inherited metabolic disorders Gender-based medicine Care-giver |
| title | The multifaceted challenges faced by women in the field of inherited metabolic disorders |
| title_full | The multifaceted challenges faced by women in the field of inherited metabolic disorders |
| title_fullStr | The multifaceted challenges faced by women in the field of inherited metabolic disorders |
| title_full_unstemmed | The multifaceted challenges faced by women in the field of inherited metabolic disorders |
| title_short | The multifaceted challenges faced by women in the field of inherited metabolic disorders |
| title_sort | multifaceted challenges faced by women in the field of inherited metabolic disorders |
| topic | Inherited metabolic disorders Gender-based medicine Care-giver |
| url | https://doi.org/10.1186/s13023-025-03604-8 |
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