This shows you the differences between two versions of the page.
Both sides previous revision Previous revision | |
content:pyridoxal_5_-phosphate-dependent_epilepsy [2024/03/24 21:08] – [Standardized Vitamin B6 Trial] biju.hameed@gmail.com | content:pyridoxal_5_-phosphate-dependent_epilepsy [2024/03/24 21:09] (current) – biju.hameed@gmail.com |
---|
====== Pyridoxal 5 Phosphate Dependent Epilepsy ====== | ====== Pyridoxal 5 Phosphate Dependent Epilepsy ====== |
| |
{{page>template:stub}} | |
PNPO deficiency [[https://www.omim.org/entry/603287|(OMIM 6032870)]] is an autosomal recessive inborn error of metabolism that leads to a seizure disorder, presenting in the newborn period (neonatal epileptic encephalopathy) or early infancy, that can be treated with pyridoxal 5’-phosphate but (classically) not pyridoxine. Seizures are often characterized by irregular involuntary muscle contractions (myoclonus), abnormal eye movements, and convulsions. | PNPO deficiency [[https://www.omim.org/entry/603287|(OMIM 6032870)]] is an autosomal recessive inborn error of metabolism that leads to a seizure disorder, presenting in the newborn period (neonatal epileptic encephalopathy) or early infancy, that can be treated with pyridoxal 5’-phosphate but (classically) not pyridoxine. Seizures are often characterized by irregular involuntary muscle contractions (myoclonus), abnormal eye movements, and convulsions. |
| |