Download - Shortcast: A case of hyperlysinemia identified by urine newborn screening

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Shortcast: A case of hyperlysinemia identified by urine newborn screening

2023-12-29

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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