Which metabolic disorders may cause epileptic seizures?

Updated: May 30, 2019
  • Author: David Y Ko, MD; Chief Editor: Selim R Benbadis, MD  more...
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Answer

Many different metabolic disorders can cause seizures, some as a result of a metabolic disturbance such as hypoglycemia or acidosis and some as a primary manifestation of the seizure disorder. Some seizures are responsive to administration of certain vitamins (eg, pyridoxine-responsive or folinic acid-responsive seizures).

Peroxisomal biogenesis disorders, which can cause seizures, result from homozygosity for mutation in one of the many PEX genes. One of these disorders, Zellweger syndrome, presents in the neonatal period as hypotonia, seizures, and hepatic dysfunction. Death typically occurs from respiratory failure within the first year of life.

Congenital disorders of glycosylation are a group of disorders that (as their name suggests) involve malfunction in one of the many enzymes involved in the pathway that attaches certain oligosaccharides to proteins. These disorders vary significantly in their severity and characteristic manifestations. Hypotonia, intellectual disability, failure to thrive/feeding difficulties, and unusual fat distribution are common. Seizures occur in some cases.


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