Multidisciplinary detective work prevent unnecessary and expensive lifelong treatment

Jarvis, Stuart; Bowron, A; Powers, Victoria; Pierre, Gashema

doi:10.1136/archdischild-2012-301728.38

Cited by 1 publication

(3 citation statements)

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“…It should be noted that MA is not a specific marker for MAAI-D. MA concentrations are also elevated in patients treated with medication in the form of maleate salts, sodium dichloroacetate (DCA), and the DCA precursor dichloroaldehyde. 26 DCA and dichloroaldehyde inactivate MAAI, 22,27 mimicking MAAI-D, thereby elevating MA. It is suggested that this is more likely to occur in patients with a polymorphism in a drug-metabolizing enzyme, resulting in slow metabolism of MA.…”

Section: Discussionmentioning

confidence: 99%

“…It is suggested that this is more likely to occur in patients with a polymorphism in a drug-metabolizing enzyme, resulting in slow metabolism of MA. 26 Patients' drug history should be taken into account when interpreting urine MA excretion. However, the relevance of this may be limited for NBS, as newborns are unlikely to be treated with these medications.…”

Section: Discussionmentioning

confidence: 99%

“…DCA and dichloroaldehyde inactivate MAAI, 22,27 mimicking MAAI‐D, thereby elevating MA. It is suggested that this is more likely to occur in patients with a polymorphism in a drug‐metabolizing enzyme, resulting in slow metabolism of MA 26 . Patients' drug history should be taken into account when interpreting urine MA excretion.…”

Section: Discussionmentioning

confidence: 99%

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Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1

van Vliet,

Dijkstra,

Bouva

et al. 2023

J of Inher Metab Disea

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PurposeDried blood spot succinylacetone (SA) is often used as biomarker for newborn screening (NBS) for Tyrosinemia type 1 (TT1). However, false‐positive SA results are often observed. Elevated SA may also be due to maleylacetoacetate isomerase deficiency (MAAI‐D), which appears to be clinically insignificant. This study investigated whether urine organic acid (uOA) and quantitative urine maleic acid (Q‐uMA) analyses can distinguish between TT1 and MAAI‐D.MethodsWe reevaluated/measured uOA (GC‐MS) and/or Q‐uMA (LC‐MS/MS) in available urine samples of 9 referred newborns (2 TT1, 7 false‐positive), 8 genetically confirmed MAAI‐D children and 66 controls.ResultsMaleic acid was elevated in uOA of 5/7 false‐positive newborns and in the 3 available samples of confirmed MAAI‐D children, but not in TT1 patients. Q‐uMA ranged from not detectable to 1.16 mmol/mol creatinine in controls (n=66), and from 0.95‐192.06 mmol/mol creatinine in false‐positive newborns and MAAI‐D children (n=10). MAAI‐D was genetically confirmed in 4/7 false‐positive newborns, all with elevated Q‐uMA, and rejected in the 2 newborns with normal Q‐uMA. No sample was available for genetic analysis of the last false‐positive infant with elevated Q‐uMA.ConclusionMAAI‐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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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%