Glutaric acidemia type 1 (clinical cases)

Abstract

Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency, glutaric acidemia type 1) (OMIM 231670) is an autosomal recessive disease caused by mutations in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH). Glutaryl-CoA dehydrogenase (GCDH) plays an important role in the degradation metabolism of L-lysine, L-hydroxylysine and L-tryptophan. The insufficiency or absence of the enzyme leads to the accumulation of by-products of degradation of such amino acids as glutaric acid, 3-hydroxyglutaric acid, glutarylcarnitine (C5DC-acylcarnitine) and glutaconic acid. The accumulation of glutaric acid and 3-OH-glutaric acid causes neurotoxicity. Glutaric aciduria type 1 can manifest itself in early childhood with encephalitis-like crises: from three months to three years as GA-1 with infantile onset or from the age of six years as the late onset of GA-1. It is characterized by progressive neurological motor disorders, with the appearance of various types of hyperkinesis in combination with spasticity, a high incidence of disability and mortality. In about 25% of cases, the disease has a subacute course and manifests over the first year of life with a delay in psychomotor development, the gradual development of hyperkinetic syndrome, and spasticity. Awareness of doctors and alertness regarding diseases from the group of hereditary metabolic diseases will help to carry out therapy in a timely manner both in the acute period and in the appointment of long-term therapy to prevent disability of patients.