When a child has repeated vomiting, unusual sleepiness, seizures, developmental regression, psychiatric-like symptoms, or sudden worsening after fever, fasting, or illness, doctors may consider more than a primary neurologic or behavioral diagnosis.
This video explains how inborn errors of metabolism (IEMs) may be investigated, why emergency treatment should not wait for genetic test results during a metabolic crisis, and why genetic testing must be interpreted together with symptoms, family history, biochemical testing, enzyme studies, imaging, and disease course.
You will learn what different genetic tests can and cannot detect, including targeted variant testing, single-gene testing, gene panels, whole exome sequencing (WES), whole genome sequencing (WGS), mitochondrial DNA testing, RNA analysis, CNV analysis, and functional studies.
The video also explains why a negative genetic test does not always rule out an inherited metabolic disorder, why a variant of uncertain significance (VUS) is not a diagnosis, and why finding only one pathogenic variant in a suspected autosomal recessive disorder may require further investigation.
This content is for educational purposes only and is not medical advice. If a child has seizures, altered consciousness, severe vomiting, low blood sugar, high ammonia, acidosis, or other urgent symptoms, families should seek emergency medical care immediately.
