ABSTRACT

Glutaric aciduria type 1 is an autosomal recessive rare neurometabolic disease caused by the deficiency of glutaryl- coenzyme A dehydrogenase which has a part in Llysine, L-hydroxylysine and L-tryptophan metabolism. It may be manifested by convulsion, dystonia and dyskinetic movements or by chronic course such as the loss of the neuromotor development stages following an infection, a routine vaccination or surgery. Majority of the patients has macrocephaly. Tandem-mass spectrometry, urine organic acid analysis and brain magnetic resonance imaging can be used to diagnose glutaric aciduria type 1. The progression of the disease may be limited considerably with lysine restricted diet and L-carnitine supplementation. In this article, we aimed to emphasize the importance of early diagnosis and treatment in glutaric aciduria type 1 by presenting a six-month-old male patient who was admitted to our clinic with the complaints of fever and cough and identified with macrocephaly on the physical examination and developed dyskinetic movements and convulsions on his follow-up.