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

* If an ill neonate presents and there is any concern for inherited metabolic disorder, 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.

* If there are concerns for inherited metabolic disorder, in addition to glucose, checking ketones (urine or serum, though serum preferred), ammonia, and lactate can be very helpful.

* If the ammonia level is >200 micromols/L and rising, dialysis will likely be needed and you need to start making plans for this.

* Neonates generally can not generate a significant ketosis, even if fasting or ill, without an inherited metabolic disorder.

* Other labs to consider obtaining in an ill child with hypoglycemia or concern for metabolic disorder

* Cortisol

* Serum Amino Acids

* Urine Organic Acids

* Serum ketones

* Free fatty acids

* Growth Hormone

* Insulin

* Acylcarnitine profile

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