Glutaric aciduria type 1 Glutarik asidüri tip 1


Saltik S. , Ergüven M., Sevük S., Özümüztoprak N.

Goztepe Tip Dergisi, vol.20, no.1, pp.54-56, 2005 (Refereed Journals of Other Institutions) identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 1
  • Publication Date: 2005
  • Title of Journal : Goztepe Tip Dergisi
  • Page Numbers: pp.54-56

Abstract

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.