Glutaric aciduria type 1

Glutaric aciduria type 1 is a rare metabolic disorder that is caused by deficiency of glutaryl-coenzyme-A dehydrogenase. Early diagnosis and intensive management of this disease
could alter the naturel of the disorder. We report a 8 months old case with glutaric aciduria type 1 who presented as macrocephaly to emphazise the importance of the cranial MRI findings to diagnose this disease. Since his cranial MRI findings were suggestive of glutaric aciduria type 1, metabolic analyse was planned to establish the diagnosis of this disorder.

Keywords: Glutaric aciduria type 1, cranial MRI, macrocephaly

Glutarik asidüri tip 1

Anahtar Kelimeler: Glutarik asidüri tip 1, kranial MRI, makrosefali