Glutaric acidemia type 1 (clinical cases)

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 acid, 3-hydroxyglutaric glutarylcarnitine (C5DC-acylcarnitine) glutaconic acid. acid 3-OH-glutaric causes neurotoxicity. can manifest itself early childhood with encephalitis-like crises: from three months years GA-1 infantile onset age six late GA-1. It characterized progressive neurological motor disorders, appearance various types hyperkinesis combination spasticity, a high incidence disability mortality. In about 25% cases, has subacute course manifests over first year life delay psychomotor development, gradual development hyperkinetic syndrome, spasticity. Awareness doctors alertness regarding diseases group hereditary metabolic will help carry out therapy timely manner both acute period appointment long-term prevent patients.