Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria
| Autor: | Dorothy K. Grange, Zoë Hawks, Desirée A. White, Jerrel Rutlin, Shawn E. Christ, Joshua S. Shimony |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Oncology congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Intelligence Sapropterin dihydrochloride White matter 03 medical and health sciences 0302 clinical medicine Endocrinology Internal medicine Genetics Phenylketonuria Medicine Psychiatry lcsh:QH301-705.5 Molecular Biology BH4 lcsh:R5-920 business.industry nutritional and metabolic diseases Cognition Response to treatment Additional research Non responders Diffusion tensor imaging 030104 developmental biology medicine.anatomical_structure lcsh:Biology (General) IQ lcsh:Medicine (General) business 030217 neurology & neurosurgery Research Paper Diffusion MRI |
| Zdroj: | Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 8-13 (2017) Molecular Genetics and Metabolism Reports |
| ISSN: | 2214-4269 |
| DOI: | 10.1016/j.ymgmr.2017.01.013 |
| Popis: | Sapropterin dihydrochloride (BH4) reduces phenylalanine (Phe) levels and improves white matter integrity in a subset of individuals with phenylketonuria (PKU) known as “responders.” Although prior research has identified biochemical and genotypic differences between BH4 responders and non-responders, cognitive and neural differences remain largely unexplored. To this end, we compared intelligence and white matter integrity prior to treatment with BH4 in 13 subsequent BH4 responders with PKU, 16 subsequent BH4 non-responders with PKU, and 12 healthy controls. Results indicated poorer intelligence and white matter integrity in non-responders compared to responders prior to treatment. In addition, poorer white matter integrity was associated with greater variability in Phe across the lifetime in non-responders but not in responders. These results underscore the importance of considering PKU as a multi-faceted, multi-dimensional disorder and point to the need for additional research to delineate characteristics that predict response to treatment with BH4. |
| Databáze: | OpenAIRE |
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