CBS and MTHFR deficiencies aren’t just rare childhood disorders—they may be hiding behind your adult patient’s “idiopathic” neurological symptoms. We often associate inborn errors of metabolism with paediatrics: neonates in NICUs, metabolic crises, urgent interventions. But what happens when these genetic disorders masquerade as psychiatric illness, unexplained strokes, or progressive dementia in adults? A 2007

When we talk about MTHFR polymorphisms, most practitioners think about methylation, cardiovascular risk, or pregnancy complications. But increasingly, the research is pointing to a different arena where these gene variants may play a pivotal role: the brain. From autism spectrum disorder to schizophrenia and major depression, MTHFR-related impairments in one-carbon metabolism may alter neurodevelopment, neurotransmission,