Given the high prevalence of neurometabolic disorders in Iran, finding the cause of a delayed neurodevelopment is essential.
In this study, the clinical and paraclinical findings (metabolic and genetic) of cases who were referred to the pediatric neurology department of Mofid Hospital in Tehran due to the mentioned complaint from 2004 to 2014 were evaluated.
The results of 213 individuals with a mean age of 41 months (71% were a result of consanguineous marriages) indicated 34 different neurometabolic disorders that were divided into the following seven subtypes:
- Organic acidemia and aminoacidopathy
- Storage diseases
- Leukodystrophy
- Lipid oxidation disorders
- Urea cycle disorders
- Progressive myoclonic epilepsy
- Peroxisomal Disorders
According to the results of this study, it is recommended that in all individuals with delayed neurodevelopment, who also have a positive family history and/or suspicious radiographic findings with specific patterns, neurometabolic disorders should be considered as a differential diagnosis.
