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Pathway Description
Pyridoxine Dependency with Seizures
Homo sapiens
Disease Pathway
The condition pyridoxine dependent-epilepsy is a condition that sees seizures beginning in infancy. In some cases, the seizures begin before birth. The seizures involve status epilepticus, which are seizures that last several minutes. The symptoms specific to pyridoxine dependent seizures can include hypothermia, dystonia and irritability right before an episode. They also include loss of consciousness, convulsions, and muscle rigidity. Rarely does this condition manifest between 1 to 3 years of age, although it has occured. Traditional anticonvulsant medication has proven ineffective in patients with this condition; patients are instead treated with pyridoxine daily in large doses. This compound is a b-vitamin found in food. Encephalopathy can occur if this condition is not treated, which can result in permanent brain damage. Although this condition is treated with pyridoxine, it can still cause neurological issues, such as learning disorders or developmental delay, regardless of treatment.
References
Pyridoxine Dependency with Seizures References
Rajesh R, Girija AS: Pyridoxine-dependent seizures: a review. Indian Pediatr. 2003 Jul;40(7):633-8.
Pubmed: 12881619
Gospe SM Jr: Pyridoxine-Dependent Epilepsy - ALDH7A1.
Pubmed: 20301659
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
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