Dr Sander Houten discusses a child with hyperlysinemia diagnosed via newborn screening and whether this reflects a disease or just a metabolic perturbation. This distinction is relevant as inducing this state may be a treatment option in GA1 or pyridoxine dependent epilepsy.

A case of hyperlysinemia identified by urine newborn screening

Mehdi Yeganeh, et al

https://doi.org/10.1002/jmd2.12399