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Cited by 176Metabolism and Genetic DisordersAdvanced MRI Techniques and ApplicationsNeurological and metabolic disorders

MR diffusion imaging and MR spectroscopy of maple syrup urine disease during acute metabolic decompensation

Berry, Gerard T., Kaplan, Paige B., Kaye, Edward M., Jan, Wajanat, Zimmerman, Robert A., Wang, Zhiyue J.·2003·Neuroradiology
DOI 10.1007/s00234-003-0955-7
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Abstract

Maple syrup urine disease (MSUD) is an inborn error of amino acid metabolism, which affects the brain tissue resulting in impairment or death if untreated. Imaging studies have shown reversible brain edema during acute metabolic decompensation. The purpose of this paper is to describe the diffusion-weighted imaging (DWI) and spectroscopy findings during metabolic decompensation and to assess the value of these findings in the prediction of patient outcome. Six patients with the diagnosis of MSUD underwent conventional MR imaging with DWI during acute presentation with metabolic decompensation. Spectroscopy with long TE was performed in four of the six patients. Follow-up examinations were performed after clinical and metabolic recovery. DWI demonstrated marked restriction of proton diffusion compatible with cytotoxic or intramyelinic sheath edema in the brainstem, basal ganglia, thalami, cerebellar and periventricular white matter and the cerebral cortex. This was accompanied by the presence of an abnormal branched-chain amino acids (BCAA) and branched-chain alpha-keto acids (BCKA) peak at 0.9 ppm as well as elevated lactate on proton spectroscopy in all four patients. The changes in all six patients were reversed with treatment without evidence of volume loss or persistent tissue damage. The presence of cytotoxic or intramyelinic edema as evidenced by restricted water diffusion on DWI, with the presence of lactate on spectroscopy, could imply imminent cell death. However, in the context of metabolic decompensation in MSUD, it appears that changes in cell osmolarity and metabolism can reverse completely after metabolic correction.

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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 Jan et al. 2003

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Authors
Berry, G. T., Kaplan, P. B., Kaye, E. M., Jan, W., Zimmerman, R. A., & Wang, Z. J.
Affiliations
Children's Hospital of Philadelphia (US)
Corresponding author
Zimmerman, Robert A.
ORCID
Venue
Neuroradiology
Publisher
Springer Science and Business Media LLC
Published
2003-06-01
Volume
45
Issue
6
Pages
393-399
ISSN
  • 0028-3940 (ISSN-L)
  • 1432-1920
DOI
10.1007/s00234-003-0955-7
OpenAlex
W2073143133
Cited by
176
References
26
Citations by year
2026: 3 · 2025: 5 · 2024: 3 · 2023: 2 · 2022: 7 · 2021: 8 · 2020: 7 · 2019: 4 · 2018: 5 · 2017: 8 · 2016: 7 · 2015: 8 · 2014: 7 · 2013: 13 · 2012: 21
FWCI
5.67
Type
journal article
Language
en
Open access
closed
Licence
www.springer.com/tdm (tdm)
Locations
  • Neuroradiology (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
  • Health Sciences › Medicine › Radiology, Nuclear Medicine and Imaging › Advanced MRI Techniques and Applications
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Neurological and metabolic disorders
Keywords
maple syrup urine disease, acute metabolic decompensation, diffusion-weighted imaging, 1H NMR, cytotoxic edema, branched-chain amino acids, branched-chain α-keto acids, lactate, cerebral edema, outcome prediction
MeSH terms
Amino Acids, Branched-Chain, Aspartic Acid, Basal Ganglia, Brain Stem, Cerebellum, Cerebral Cortex, Creatine, Female, Follow-Up Studies, Humans, Infant, Infant Welfare, Infant, Newborn, Ketone Oxidoreductases, Male, Maple Syrup Urine Disease, Metabolism, Inborn Errors, Multienzyme Complexes, Magnetic Resonance Spectroscopy, Phosphocreatine, Radiography, Statistics as Topic, Time Factors, Biomarkers, Lactic Acid, Diffusion Magnetic Resonance Imaging, 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)

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