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Published in 2017 at "Journal of Inherited Metabolic Disease"
DOI: 10.1007/s10545-017-0096-5
Abstract: Glutaric aciduria type I is a rare, autosomal recessive, inherited defect of glutaryl-CoA dehydrogenase. Deficiency of this protein in L-lysine degradation leads to the characteristic accumulation of nontoxic glutarylcarnitine and neurotoxic glutaric acid (GA), glutaryl-CoA,…
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Keywords:
glutaric aciduria;
impairment astrocytic;
aciduria type;
astrocytic glutaminolysis ... See more keywords