On this episode, host Jason Woods speaks with Dr. Austin Larson, a specialist in pediatric inherited metabolic disorders (and also someone way smarter than I), about what do do with the crashing neonate if there are concerns for a metabolic disorder. We review the diagnostic approach, emergent treatment, and what resources are available to read/consult in this situation.

Important points

* Most children with known inherited metabolic disorder will have a letter with them, from their metabolic doc, about what to do if they show up to the with a new illness. If they do not, then the New England Consortium website is a great resource.

* Most protocols recommend starting D10 fluids at 1.5 x maintenance is generally the recommendation, unless there is a reason why glucose/fluids will otherwise harm the patient.

* Be careful with patients who are on a ketogenic diet as treatment for their seizures, as giving them glucose can cause refractory status epilepticus. In those patients, the preferred calorie support would be lipids.

Point of Care Resources

* New England Consortium for treatment protocols

* Vademecum Metabolicum handbook in book form

* App version of Vademecum Metabolicum – eVM

Guests

Austin Larson, MD – Assistant Professor of Pediatrics and Metabolic and Clinical Genetics, University of Colorado School of Medicine and Children’s Hospital Colorado