#inbornerrorsofmetabolism

A child had poor attention, delayed speech, fatigue, ASD-related records, upward eye movements, and abnormal walking. His MRI and EEG were normal. Early genetic testing was negative. But after walking more than 200 meters, his body began to “lock up.” This video tells the real medical detective story of AADC deficiency, a rare inherited neurotransmitter disorder caused by problems in DDC, the gene that encodes aromatic L-amino acid decarboxylase. When this enzyme does not work properly, the body cannot efficiently produce dopamine and serotonin, affecting movement, sleep, behavior, autonomic function, and development. We explain how AADC deficiency can resemble autism spectrum disorder, ADHD-like attention problems, cerebral palsy, seizure-like episodes, fatigue, and developmental delay—and why diagnosis may require CSF neurotransmitter testing, DDC gene analysis, and plasma AADC enzyme activity. This video is for medical education only and does not replace professional medical advice, diagnosis, or treatment.

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.

What happens when a child’s “behavior problem” is actually a metabolic brain disorder? This video explores a real case of nonketotic hyperglycinemia (NKH) in a 4-year-old boy with developmental delay, epilepsy, autism-like features, hyperactivity, impulsivity, aggression, and disrupted sleep. We also explain how excess glycine affects the brain, why NKH can be mistaken for autism or ADHD, and what clues may point to a deeper diagnosis.

Doctors need to remember that although they see horses every day, there are occasions when they will come across a zebra. Doctors need to be willing to learn and be receptive to new ideas and treatments if they are unfamiliar with the disease. #zebra #3-methylglutaconic-aciduria #inbornerrorsofmetabolism #organicacidemia #mitochondrialdisease #metabolicdisorder #neuromusculardisease