Aicardi syndrome symptoms usually appear in babies between the ages of 2 and 5 months old. Your child may begin jerking or having infantile spasms, a type of seizure that occurs in infants. These seizures can develop into epilepsy later in life. Your child may also develop yellowish spots on their eyes. Lesions on the retina, which is the light-sensitive layer of tissue at the back of the eye, cause these spots. Other symptoms of Aicar  Read More

Short chain acyl-CoA dehydrogenase (SCAD) deficiency is a rare autosomal recessive genetic disorder of fatty acid catabolism belonging to a group of diseases known as fatty acid oxidation disorders (FOD). It occurs because of a deficiency of the short-chain acyl-CoA dehydrogenase (SCAD) enzyme. Although SCAD was initially thought to produce severe problems including progressive muscle weakness, hypotonia, acidemia, developmental de  Read More