Maleic acid is a biomarker for Maleylacetoacetate isomerase deficiency; implications for newborn screening of Tyrosinemia type 1.
K van VlietAllysa M DijkstraM J BouvaJ van der KrogtK BijsterveldF van der SluijsM G de Sain-van der VeldenK KoopA RossiJ A ThomasC A PateraM B G KiewietP J WatersD Cyrnull nullA BoelenF J van SpronsenM R Heiner-FokkemaPublished in: Journal of inherited metabolic disease (2023)
MAAI-D is a recognizable cause of false-positive TT1 NBS results. Elevated urine maleic acid excretion seems highly effective in discriminating MAAI-D from TT1. This article is protected by copyright. All rights reserved.
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