Author/Authors :
Karimzadeh، Parvaneh نويسنده , , JAFARI، Narjes نويسنده Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicin, Shahid Beheshti University of Medical Sciences, Tehran, Iran , , AHMADABADI، Farzad نويسنده Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicin, Shahid Beheshti University of Medical Sciences, Tehran, Iran , , JABBEDARI، Sayena نويسنده Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicin, Shahid Beheshti University of Medical Sciences, Tehran, Iran , , TAGHDIRI، MohammadMahdi نويسنده . Pediatric Neurologist, Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran , , NEMATI، Hamid نويسنده Pediatric Neurology Research Center, Mofid Children Hospital, Shahid Beheshti University of Medical Scineces, Tehran ,Iran , , SAKET، Sasan نويسنده Pediatric Neurology Research Center, Mofid Children Hospital, Shahid Beheshti University of Medical Scineces, Tehran ,Iran , , SHARIATMADARI، Fakhreddin نويسنده Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicin, Shahid Beheshti University of Medical Sciences, Tehran, Iran , , ALAEE، Mohammad Reza نويسنده Associate Professor of Pediatric Endocrinology, Shahid Beheshti University of Medical Sciences , , GHOFRANI، Mohammad نويسنده 1.Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran , , TONEKABONI، Seyed Hasan نويسنده 5. Professor of Pediatric Neurology, Pediatric Research Center, Shahid Beheshti University of Medical Sciences (SBMU), Tehran, Iran ,
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.
Materials & 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.
Conclusion
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.
