Shortcast: A case of hyperlysinemia identified by urine newborn screening
Dec 29, 2023•5 min
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Episode description
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
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