#3pgdhdeficiency

Many people think inherited metabolic diseases only affect critically ill newborns. But some treatable metabolic brain disorders can appear later in childhood and look like developmental delay, absence seizures, learning difficulties, hyperactivity, behavior problems, or mood instability. In this video, we explore mild 3-PGDH deficiency, a form of serine biosynthesis disorder, through the real-life cases of two siblings. We’ll cover the warning signs, how it can be mistaken for ADHD or other common childhood diagnoses, why MRI can look normal, what amino acid testing can reveal, and how early L-serine treatment may improve seizures, behavior, and quality of life.