Alzheimer’s Disease: Adult-Onset of Inborn Error of Methionine Metabolism

Methionine Metabolismrecent focus in the study of more than 200 IEMs has been with diseases in infancy and early childhood [12][13][14], such as phenylketonuria.Importantly, there appears to be a genetic relationship among those individuals at risk for developing AD [15]. Altered Brain Chemistry in Alzheimer's diseaseIndividuals diagnosed with AD have two hallmarks of the disease in their brains which are largely absent in those whose cognitive functions are unimpaired.The first of these hallmarks is protein plaques derived from beta amyloid peptides that appear in their brains [16][17][18].These plaques form clumps around brain cells, interfering with their communication with one another.Though the normal utility of beta amyloid peptides is not well-defined, their absence apparently doesn't impair physiological activity [17].The second hallmark of this disease is neurofibriliary tangles arising from the tau protein [19][20].Tau proteins assist brain cells in their communication with one another.However the formation of twists and tangles around these cells causes them to die as their cellular access to nutrients is compromised and their communicative ability severely impeded.As brain cells die, the CNS shrinks.Eventually, such brain damage causes problems with memory, intelligence, judgment, language, and behavior.The observed amyloid plaques and the tau neurofibriliary tangles appear to be a consequence of the disease and not its cause.