Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency, glutaric acidemia 1) (OMIM 231670) is an autosomal recessive disease caused by mutations in the gene encoding enzyme glutaryl-CoA (GCDH). Glutaryl-CoA (GCDH) plays important role degradation metabolism of L-lysine, L-hydroxylysine and L-tryptophan. The insufficiency or absence leads to accumulation by-products such amino acids as ...

Acetyl-CoA provision to the synaptoplasmic compartment of cholinergic nerve terminals plays a regulatory role in the synthesis of acetylcholine. The disturbances in glucose utilization and in decarboxylation of the end product of its metabolism pyruvate, are considered to be significant factors causing cholinergic deficits in several diseases of the central nervous system. In this article we re...