Inborn errors of metabolism: a three-year experience

• Main Authors: Ferit Kulalı (Author), Melis Köse (Author), Tuğçe Candan Çelik (Author), Ezgi Yangın Ergon (Author), Oğuz Han Kalkanlı (Author), Rüya Çolak (Author), Meral Yıldız (Author), Senem Alkan Özdemir (Author), Tülin Gökmen Yıldırım (Author), Şebnem Çalkavur (Author)
• Format: Book
• Published: Galenos Publishing House, 2019-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

INTRODUCTION: The deficiency or absence of an enzyme or cofactor in the metabolic pathway leads to the formation or accumulation of a specific metabolite resulting in inborn errors of metabolism (IEM).The neonate who is, usually, born healthy at birth, will present symptoms such as a reduced activit...