Type I glutaric aciduria, part 2: A model of acute striatal necrosis

@article{Strauss2003TypeIG,
  title={Type I glutaric aciduria, part 2: A model of acute striatal necrosis},
  author={Kevin A Strauss and D. Holmes Morton},
  journal={American Journal of Medical Genetics Part C: Seminars in Medical Genetics},
  year={2003},
  volume={121C}
}
  • K. Strauss, D. Morton
  • Published 15 August 2003
  • Biology
  • American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Type I glutaric aciduria (GA1) is an inborn error of organic acid metabolism that is associated with acute neurological crises, typically precipitated by an infectious illness. The neurological crisis coincides with swelling, metabolic depression, and necrosis of basal ganglia gray matter, especially the putamina and can be visualized as focal, stroke‐like, signal hyperintensity on MRI. Here we focus on the stroke‐like nature of striatal necrosis and its similarity to brain injury that occurs… 
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TLDR
Six post-mortem brains from aboriginal Ojibway–Cree GA1 patients of Northern Canada are reported on to offer additional insight into the pathogenesis of the disorder to help develop an intervention strategy that could prevent the episode associated with acute striatal necrosis.
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TLDR
Using a mouse model of GA-I, it is shown that pathologic events began in the neuronal compartment while enhanced lysine accumulation in the immature brain allowed increased glutaric acid production resulting in age-dependent injury.
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TLDR
MR imaging found bilateral involvement of the putamina and periventricular white matter, and bilateral temporal atrophy and widened Silvian fissures in a 16 year-old girl with glutaric aciduria type I, who presented with a chronic dystonic syndrome and previously diagnosed of brain paralysis.
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TLDR
It is concluded that neuron loss occurs shortly after the encephalopathical crisis and does not progress, and the pathogenesis of selective neuronal loss cannot be explained on the basis of regional genetic and/or metabolic differences.
Glutaric Aciduria Type I: A Neuroimaging Diagnosis?
TLDR
A previously healthy 17-month-old girl who presented with acute dystonia was diagnosed with glutaric aciduria type I and conventional T2-weighted and fluid-attenuated inversion recovery magnetic resonance images of the brain showed hyper-intensity in the caudates and putamina bilaterally with subtle involvement of the medial frontal lobes.
Mechanism of metabolic stroke and spontaneous cerebral hemorrhage in glutaric aciduria type I
TLDR
Using a mouse model of GA1, it is shown that metabolic stroke progresses in the opposite sequence of ischemic stroke, with initial neuronal swelling and vacuole formation leading to cerebral capillary occlusion.
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.
TLDR
It is hypothesized that neuroradiological abnormalities and neurological symptoms in glutaric aciduria type I can be explained by overlaying episodes of cerebral alterations including maturational delay of the brain in utero, acute striatal injury during a vulnerable period in infancy and chronic progressive changes that may continue lifelong.
Pathogenesis of brain damage in glutaric acidemia type I: Lessons from the genetic mice model
Glutaric aciduria type I: value of diffusion-weighted magnetic resonance imaging for diagnosing acute striatal necrosis.
TLDR
Diffusion-weighted MR imaging demonstrated more extensive disease than was apparent either on CT or on the conventional MR images, including bilateral involvement of the putamina, globus pallidus, and caudate nuclei, consistent with acute necrosis of the corpus striatum and lentiform nuclei.
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TLDR
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TLDR
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