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Brain function in classic galactosemia, a galactosemia network (GalNet) members review
Bianca Panis1,2,3, E Naomi Vos1,2,3,4,5, Ivo Barić6
1Department of Pediatrics, MosaKids Children's Hospital, Maastricht University Medical Centre, Maastricht, Netherlands.
Frontiers in Genetics
|March 1, 2024
Summary
Classic galactosemia (CG) impairs brain function in most patients despite dietary treatment. While many patients maintain cognitive function, some experience neurological decline and mental health issues.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Classic galactosemia (CG) is an inherited metabolic disorder.
- Despite galactose restriction, 85% of CG patients experience brain dysfunction.
- Symptoms include cognitive, neuropsychological, and neurological issues with high variability.
Purpose of the Study:
- To review the impact of impaired galactose metabolism on brain dysfunction in CG.
- To discuss proposed disease mechanisms, timing of damage, and treatment options.
- To describe the brain disease course over time using diverse study data.
Main Methods:
- Literature review synthesizing current knowledge on CG and brain dysfunction.
- Analysis of data from longitudinal, cross-sectional, and retrospective studies.
- Incorporation of specialist clinical observations for a comprehensive disease course depiction.
Main Results:
- Most CG patients do not show cognitive decline.
- A subset with early cerebral/cerebellar volume loss may experience neurological worsening.
- Anxiety and depression are common, with increased complaints in older patients likely multifactorial.
Conclusions:
- Impaired galactose metabolism significantly impacts brain function in CG patients.
- Understanding the disease course and multifactorial nature of symptoms is crucial for management.
- Further research into disease mechanisms and targeted treatments is warranted.
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