{Reference Type}: Case Reports
{Title}: Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource-limited settings.
{Author}: Regmi PR;Yadav AK;Koirala B;Yadav S;Shrestha S;
{Journal}: Radiol Case Rep
{Volume}: 19
{Issue}: 9
{Year}: 2024 Sep
暂无{DOI}: 10.1016/j.radcr.2024.05.040
{Abstract}: Glutaric aciduria type 1 is a rare autosomal recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase, which is the key mitochondrial enzyme involved in the final degradation of lysine, L-hydroxylysine, and L-tryptophan. It is an inherited organic acidemia characterized by macrocephaly and dystonia, which results in high morbidity and mortality. In resource-limited countries like Nepal, where enzyme assays are not available, MRI has a great role to play in supporting diagnosis in such situations. Here, we present 2 cases of glutaric aciduria type 1 in brothers from the same parent that were diagnosed by MRI, and subsequent diet modification and L-carnitine therapy led to improvement of clinical symptoms.