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
GM2-Gangliosidosis disease is a rare autosomal recessive genetic disorder that includes two disorders (Tay–Sachs and Sandhoff disease).These disorders cause a progressive deterioration of nerve cells
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
Migraine is a disabling illness that causes absence from school and affects the quality of life. It has been stated that headache may represent an
Guillain-Barré Syndrome is an acute inflammatory polyneuropathy characterized by a symmetric progressive weakness and is the most common cause of acute flaccid paralysis in various
Migraine, with a prevalence of 9.2% in a sample of 36,000 children in Europe (5.2% of boys and 9.1% of girls), is a common problem
Metachromatic leukodystrophy disorder (MLD) is one of the rare neurometabolic diseases caused due to lack of saposin B and arylsulfatase A enzyme deficiency. In this
Homocystinuria is a neurometabolic disease characterized by symptoms including Neurodevelopmental delay, lens dislocation, long limbs and thrombosis. The patients who were diagnosed as homocystinuria marfaniod
Canavan’s disease is a lethal illness caused by a single gene mutation that is inherited as an autosomal recessive pattern. It has many different clinical
Adrenoleukodystrophy is an X-linked genetic disease that presents with the disruption of the myelin sheath in the brain, very long-chain fatty acids (VLCFAs), and adrenal
