title: Propionic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder.
abstract: OBJECTIVE
  Propionic acidemia is one of the rare congenital neurometabolic disorders with autosomal recessive inheritance. This disorder is caused by a defect in the propionyl-CoA carboxylase enzyme and can be presented with life-threatening ketoacidosis, lethargy, failure to thrive, and developmental delay.
  
  
  METHODS
  The patients diagnosed as having propionic acidemia in Neurology Department of Mofid Children's Hospital in Tehran, Iran, between 2002 and 2012 were include in our study. This disorder was confirmed by clinical manifestations, neuroimaging findings, and neurometabolic assessment in the reference laboratory in Germany. Our study was conducted to define the sex, age, gender, past medical history, developmental status, clinical findings, and neuroimaging manifestations in 10 patients with propionic acidemia.
  
  
  RESULTS
  Seventy percent of patients were offspring of consanguineous marriages. In this study, only one patient had microcephaly at birth, but at detection time, 30% of patients had head circumference and weight below the 3rd percentile. The patients were followed for approximately 5 years and this follow-up showed that the patients with early diagnosis had a more favorable clinical response. Neuroimaging findings included brain atrophy, white matter and globus pallidus involvement.
  
  
  CONCLUSIONS
  Finally we suggest that early diagnosis and treatment have an important role in the prevention of disease progression.
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran ; Pediatric Neurology Excellence Center, Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran.
authors.forename: Parvaneh
authors.initials: P
authors.lastname: Karimzadeh
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran.
authors.forename: Narjes
authors.initials: N
authors.lastname: Jafari
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran.
authors.forename: Farzad
authors.initials: F
authors.lastname: Ahmad Abadi
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran.
authors.forename: Sayena
authors.initials: S
authors.lastname: Jabbedari
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran ; Pediatric Neurology Excellence Center, Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran.
authors.forename: Mohammad-Mahdi
authors.initials: MM
authors.lastname: Taghdiri
authors.affiliation: Department of Pediatric Endocrinology, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad-Reza
authors.initials: MR
authors.lastname: Alaee
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran ; Pediatric Neurology Excellence Center, Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Ghofrani
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran ; Pediatric Neurology Excellence Center, Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran.
authors.forename: Seyed Hassan
authors.initials: SH
authors.lastname: Tonekaboni
authors.affiliation: Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran.
authors.forename: Habibeh
authors.initials: H
authors.lastname: Nejad Biglari
keywords: Developmental delay; Early detection; Neurometabolic disorder; Propionic academia