Glutaric aciduria type 1 Glutarik asidüri tip 1


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

Goztepe Tip Dergisi, cilt.20, sa.1, ss.54-56, 2005 (Diğer Kurumların Hakemli Dergileri) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 20 Konu: 1
  • Basım Tarihi: 2005
  • Dergi Adı: Goztepe Tip Dergisi
  • Sayfa Sayıları: ss.54-56

Özet

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.