title: Methylmalonic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder (an Iranian pediatric case series).
abstract: OBJECTIVE
  Methylmalonic acidemia is one of the inborn errors of metabolism resulting in the accumulation of acylcarnitine in blood and increased urinary methylmalonic acid excretion. This disorder can have symptoms, such as neurological and gastrointestinal manifestations, lethargy, and anorexia.
  
  
  METHODS
  The patients who were diagnosed as methylmalonic acidemia in the Neurology Department of Mofid Children's Hospital in Tehran, Iran, between 2002 and 2012 were included in our study. The disorder was confirmed by clinical findings, neuroimaging findings, and neurometabolic and genetic assessment in reference laboratory in Germany. We assessed the age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of 20 patients with methylmalonic acidemia.
  
  
  RESULTS
  Eighty percent of the patients were offspring of consanguineous marriages. Half of the patients had Failure to thrive (FTT) due to anorexia; 85% had history of developmental delay or regression, and 20% had refractory seizure, which all of them were controlled. The patients with methylmalonic acidemia were followed for approximately 5 years and the follow-up showed that the patients with early diagnosis had a more favorable clinical response in growth index, refractory seizure, anorexia, and neurodevelopmental delay. Neuroimaging findings included brain atrophy, basal ganglia involvement (often in putamen), and periventricular leukomalacia.
  
  
  CONCLUSIONS
  According to the results of this study, we suggest that early assessment and diagnosis have an important role in the prevention of disease progression and clinical signs.
authors.affiliation: Pediatric Neurologist, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran ; Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicin, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Parvaneh
authors.initials: P
authors.lastname: Karimzadeh
authors.affiliation: Pediatric Neurologist, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Narjes
authors.initials: N
authors.lastname: Jafari
authors.affiliation: Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicin, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Farzad
authors.initials: F
authors.lastname: Ahmad Abadi
authors.affiliation: Pediatric Neurologist, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Sayena
authors.initials: S
authors.lastname: Jabbedari
authors.affiliation: Pediatric Neurologist, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad-Mahdi
authors.initials: MM
authors.lastname: Taghdiri
authors.affiliation: Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicin, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Hamid
authors.initials: H
authors.lastname: Nemati
authors.affiliation: Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicin, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Sasan
authors.initials: S
authors.lastname: Saket
authors.affiliation: Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicin, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Seyed-Fakhreddin
authors.initials: SF
authors.lastname: Shariatmadari
authors.affiliation: Department of Pediatric Endocrinology, Faculty of Medicin, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad-Reza
authors.initials: MR
authors.lastname: Alaee
authors.affiliation: Pediatric Neurologist, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Ghofrani
authors.affiliation: Pediatric Neurologist, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Seyed Hasan
authors.initials: SH
authors.lastname: Tonekaboni
keywords: Developmental delay; Early detection; Methylmalonic academia; Neurometabolic disorder