Biochemistry and Genetics in Current Perspectives and Questions

November 21, 2023

This article was published in March of 2023 and reviews the most up-to-date progress in pyridoxine-dependent epilepsy (PDE-ALDH7A1). I’ve included the original article here. CurePDE has broken up the article into smaller sections and adapted it for non-medical readers looking for a concise introduction to the topic using plain scientific language. We are aware that we have different types of readers, and thus, we will present information in a more direct scientific language and in a simplified version as well.

If you would like to read the introduction, please go here.

If you would like to read about the three forms of PDE go here.

If you would like to read about the clinical aspects, go here.

PDE-ALDH7A1 is a condition affecting the brain’s metabolism due to a genetic error in processing lysine. In this condition, specific gene changes lead to the lack or malfunction of an enzyme called α-AASA dehydrogenase, also known as antiquitin. This enzyme is crucial in converting certain substances in the body.

The root of the problem in PDE-ALDH7A1 lies in the buildup of various substances in the body, including pipecolic acid, α-AASA, and Δ1-piperideine-6-carboxylate, which affects the lysine breakdown process. This buildup interferes with a compound called PLP, which plays a vital role in over 160 activities in our cells. Dysfunction of enzymes that depend on PLP, especially one called glutamic acid decarboxylase, is thought to contribute to the seizures experienced by patients.

Interestingly, although these patients aren’t lacking in vitamin B6 (pyridoxine), they have a shortage of another important compound called PLP. As a result, they need to take large daily doses of pyridoxine to help manage the condition. This intricate process sheds light on the complexities of PDE-ALDH7A1 and the various factors involved in its development.

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