Therefore, mutations in the PLPBP gene disrupt this process, causing PLP to react with other substrates and impacting the metabolism of important amine or amino acid neurotransmitters in the brain, consequently leading to the development of epilepsy
The diagnostic process typically involves: Clinical history taking, focusing on symptoms (fatigue, neurological changes, dietary habits) Physical examination for signs of anaemia or neurological impairment Blood tests including full blood count, serum B12, and often folate levels Additional investigations such as intrinsic factor antibodies or parietal cell antibodies if pernicious anaemia is suspected For borderline results, additional tests like holotranscobalamin (active B12) may be considered NICE guidance recommends that treatment should commence based on clinical presentation if neurological symptoms are present, without waiting for laboratory confirmation, as delays can result in irreversible nerve damage
PMID 22415298
Proven Benefits : BPC-157 has been more widely studied, particularly in the context of injury recovery and gut health
Not an indication of safety or efficacy