Article
(1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites.
Journal of inherited metabolic disease - 1 Sept 2015
Harting Inga, Boy Nikolas, Heringer Jana, Seitz Angelika, Bendszus Martin, Pouwels Petra J W, Kölker Stefan
Abstract excerpt
BACKGROUND: In glutaric aciduria type 1 (GA1) the neurotoxic metabolites glutaric acid (GA) and 3-hydroxyglutaric acid (3-OH-GA) accumulate within the brain. Due to limited efflux across the blood-brain-barrier biochemical monitoring of intracerebrally accumulating toxic metabolites is as yet not possible. AIMS: To investigate brain metabolic patterns in glutaric aciduria type 1 using (1)H magnetic resonance...
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