ArticleMolecular genetics and metabolism reports2020
The effects of early-treated phenylketonuria on volumetric measures of the cerebellum.
Article in Molecular genetics and metabolism reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 15 citations in OpenAlex.
- Transient brain structure changes after high phenylalanine exposure in adults with phenylketonuria.Brain : a journal of neurology · 2024Trial
- Brain Age in Adult Patients With Early-Treated Phenylketonuria.Journal of inherited metabolic disease · 2026Article
- Volumetric brain reductions in adult patients with phenylketonuria and their relationship with blood phenylalanine levels.Journal of neurodevelopmental disorders · 2024Article
- Article
- Cognitive Functioning in Adults with Phenylketonuria in a Cohort of Spanish Patients.Behavioural neurology · 2023Article
- Mild hyperphenylalaninemia (hpa) presenting as orthostatic tremor: a case report.BMC neurology · 2022Article
- Cortical thickness and its relationship to cognitive performance and metabolic control in adults with phenylketonuria.Journal of inherited metabolic disease · 2022Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Past murine studies of phenylketonuria (PKU) have documented significant effects on cerebellum at both the gross and cellular levels. The profile of neurocognitive and motor difficulties associated with early-treated PKU (ETPKU) is also consistent with potential cerebellar involvement. Previous neuroanatomical studies of cerebellum in patients with PKU, however, have yielded mixed results. The objective of the present study was to further examine potential differences in cerebellar morphometry between individuals with and without ETPKU. To this end, we analyzed high resolution T1-weighted MR images from a sample of 20 individuals with ETPKU and an age-matched comparison group of 20 healthy individuals without PKU. Measurements of whole brain volume, whole cerebellum volume, cerebellar gray matter volume, and cerebellar white matter volume were collected by means of semiautomatic volumetric analysis. Data analysis revealed no significant group differences in whole brain volume, whole cerebellar volume, or cerebellar white matter volume. A significant reduction in cerebellar gray matter volume, however, was observed for the ETPKU group compared to the non-PKU comparison group. These findings expand on previous animal work suggesting that cerebellar gray matter is impacted by PKU. It is also consistent with the hypothesis that the cognitive difficulties experienced by individuals with ETPKU may be related to disruptions in gray matter. Additional studies are needed to fully elucidate the timing and extent of the impact of ETPKU on cerebellum and the associated neurocognitive consequences.
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