Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

Derek WongSilvia TortorelliLisa BishopElizabeth A SellarsLisa A SchimmentiNatalie GallantCarlos E PradaRobert J HopkinNancy D LeslieSusan A BerryDavid S RosenblattAmy L FairDietrich MaternKimiyo RaymondDevin OglesbeePiero RinaldoDimitar Gavrilov

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2015)

Early detection by NBS and timely and specific treatment considerably improve at least short-term outcomes of homocysteine remethylation disorders. When a remethylation disorder is suspected, group-specific treatment could be started prior to the completion of in vitro confirmatory testing because all disorders from this group require similar intervention.

Keyphrases

randomized controlled trial
pulmonary embolism
metabolic syndrome
adipose tissue
smoking cessation