Dysmyelination in the brain of adolescents and young adults with maple syrup urine disease
Abstract
Maple syrup urine disease (MSUD) is associated with increased branched-chain amino acids (BCAA), their keto acids (BCKA), and acute or chronic encephalopathy. Aim of treatment is to reduce BCAA and BCKA to prevent or minimize brain dysfunction. We investigated 14 juvenile and adult patients with MSUD by means of cerebral magnetic resonance imaging (MRI) and correlated MRI changes to biochemical control measured as median plasma BCAA concentrations over 6-36 months prior to investigation. Abnormalities consisted of an increased signal in the white matter on T2-weighted images which is compatible with a disturbed water content of the white matter and dysmyelination. Areas affected most commonly were mesencephalon, brain stem, thalamus and globus pallidus; supratentorial lesions seem to be restricted to severe cases. No patient with white matter changes had acute neurological/encephalopathic symptoms indicating that the severity of dysmyelination does not correlate to acute neurotoxicity.
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MRI imaging showed associated brain white matter lesions, a feature of MSUD.
“Although MRI imaging showed associated brain white matter lesions, a feature of MSUD (Jan et al. 2003; Schonberger et al. 2004), brain regions affected in MSUD patients are mainly in the mesencephalon and brain stem as well as thalamus and globus pallidus (Schonberger et al. 2004), whereas in this patient, supratentorial lesions were found without overt abnormalities in these regions.”
From Alzheimer’s disease: Targeting the glutamatergic system (2020) · cites this paper as Schonberger et al. 2004
Brain regions affected in MSUD patients are mainly the mesencephalon, brain stem, thalamus, and globus pallidus.
“Although MRI imaging showed associated brain white matter lesions, a feature of MSUD (Jan et al. 2003; Schonberger et al. 2004), brain regions affected in MSUD patients are mainly in the mesencephalon and brain stem as well as thalamus and globus pallidus (Schonberger et al. 2004), whereas in this patient, supratentorial lesions were found without overt abnormalities in these regions.”
From Alzheimer’s disease: Targeting the glutamatergic system (2020) · cites this paper as Schonberger et al. 2004
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References 25 · Cited by 101
- Authors
- SCHONBERGER, S.
- Venue
- Molecular Genetics and Metabolism
- Publisher
- Elsevier BV
- Published
- 2004-05
- Volume
- 82
- Issue
- 1
- Pages
- 69-75
- ISSN
- 1096-7192 (ISSN-L)
- OpenAlex
- W2002773847
- Cited by
- 101
- References
- 25
- Citations by year
- 2025: 2 · 2024: 2 · 2023: 2 · 2022: 7 · 2020: 3 · 2019: 2 · 2018: 1 · 2017: 7 · 2016: 4 · 2015: 8 · 2014: 4 · 2013: 9 · 2012: 12
- FWCI
- 4.88
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Molecular Genetics and Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Keywords
- maple syrup urine disease, branched-chain amino acids, branched-chain keto acids, dysmyelination, white matter abnormalities, encephalopathy, brain water content, midbrain, brainstem, thalamus, globus pallidus, adolescents and young adults
- MeSH terms
- Adolescent, Adult, Amino Acids, Branched-Chain, Brain, Child, Humans, Keto Acids, Magnetic Resonance Imaging, Maple Syrup Urine Disease, Myelin Sheath
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