Inborn Errors of Metabolism in Pediatric Malpractice: When Rare Diagnoses Create High-Stakes Litigation

Inborn errors of metabolism (IEMs) represent a paradox in pediatric litigation. Though individually rare, these disorders collectively occur in approximately 1 in 800 to 1 in 1,500 births — far more common than many attorneys realize. More significantly, IEMs represent the largest treatable cause of intellectual disability (Rodan et al., Pediatrics 2025), meaning that diagnostic delays directly translate to preventable, permanent neurological injury.

This combination — treatable conditions with catastrophic outcomes when missed — creates the conditions for high-value malpractice claims. The presence of identifiable deviations from established protocols, lifetime care needs, and the sympathetic nature of pediatric plaintiffs amplifies this exposure.

For attorneys evaluating potential IEM cases, understanding the clinical nuances separates meritorious claims from non-viable ones. For defense counsel, these same nuances often reveal that physicians acted within the standard of care despite devastating outcomes inherent to the underlying disease.

Medical Malpractice · 14 min read · Ralph D. Martello, MD, pediatric hospitalist and medical expert witness.