Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1.
maleic acid
maleylacetoacetate isomerase deficiency
newborn screening
succinylacetone
tyrosinemia type 1
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
11 2023
11 2023
Historique:
revised:
28
07
2023
received:
02
07
2023
accepted:
03
08
2023
medline:
14
11
2023
pubmed:
7
8
2023
entrez:
7
8
2023
Statut:
ppublish
Résumé
Dried blood spot succinylacetone (SA) is often used as a 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. We reevaluated/measured uOA (GC-MS) and/or Q-uMA (LC-MS/MS) in available urine samples of nine referred newborns (2 TT1, 7 false-positive), eight genetically confirmed MAAI-D children, and 66 controls. Maleic acid was elevated in uOA of 5/7 false-positive newborns and in the three 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 to 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 two newborns with normal Q-uMA. No sample was available for genetic analysis of the last false-positive infant with elevated Q-uMA. Our study shows that 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.
Substances chimiques
Biomarkers
0
Creatinine
AYI8EX34EU
maleic acid
91XW058U2C
maleylacetoacetate isomerase
EC 5.2.1.2
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
1104-1113Informations de copyright
© 2023 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.
Références
de Laet C, Dionisi-Vici C, Leonard JV, et al. Recommendations for the management of tyrosinaemia type 1. Orphanet J Rare Dis. 2013;8:8. doi:10.1186/1750-1172-8-8
van Spronsen FJ, Thomasse Y, Smit GPA, et al. Hereditary tyrosinemia type I: a new clinical classification with difference in prognosis on dietary treatment. Hepatology. 1994;20(5):1187-1191. doi:10.1002/hep.1840200513
Lindstedt S, Holme E, Lock EA, Hjalmarson O, Strandvik B. Treatment of hereditary tyrosinaemia type I by inhibition of 4-hydroxyphenylpyruvate dioxygenase. Lancet. 1992;340(8823):813-817. doi:10.1016/0140-6736(92)92685-9
Turgeon C, Magera MJ, Allard P, et al. Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots. Clin Chem. 2008;54(4):657-664. doi:10.1373/CLINCHEM.2007.101949
Magera MJ, Gunawardena ND, Hahn SH, et al. Quantitative determination of succinylacetone in dried blood spots for newborn screening of tyrosinemia type I. Mol Genet Metab. 2006;88(1):16-21. doi:10.1016/J.YMGME.2005.12.005
de Jesús VR, Adam BW, Mandel D, Cuthbert CD, Matern D. Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs. Mol Genet Metab. 2014;113(1-2):67-75. doi:10.1016/J.YMGME.2014.07.010
Chinsky JM, Singh R, Ficicioglu C, et al. Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations. Genetics in Medicine. 2017;19(12):1380-1395. doi:10.1038/gim.2017.101
Tangeraas T, Saeves I, Klingenberg C, et al. Performance of expanded newborn screening in Norway supported by post-analytical bioinformatics tools and rapid second-tier DNA analyses. Int J Neonatal Screen. 2020;6(3):51. doi:10.3390/IJNS6030051
Sörensen L, von Döbeln U, Åhlman H, et al. Expanded screening of one million Swedish babies with R4S and CLIR for post-analytical evaluation of data. Int J Neonatal Screen. 2020;6(2):42. doi:10.3390/IJNS6020042
Morrissey MA, Sunny S, Fahim A, Lubowski C, Caggana M. Newborn screening for Tyr-I: two years' experience of the New York state program. Mol Genet Metab. 2011;103(2):191-192. doi:10.1016/J.YMGME.2011.02.017
Stinton C, Geppert J, Freeman K, et al. Newborn screening for Tyrosinemia type 1 using succinylacetone-a systematic review of test accuracy. Orphanet J Rare Dis. 2017;12(1):48. doi:10.1186/s13023-017-0599-z
Yang H, Al-Hertani W, Cyr D, et al. Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency. J Med Genet. 2017;54(4):241-247. doi:10.1136/jmedgenet-2016-104289
Yang H, Rossignol F, Cyr D, et al. Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH alleles. Mol Genet Metab Rep. 2017;2018(14):55-58. doi:10.1016/j.ymgmr.2017.12.002
Freeman PJ, Hart RK, Gretton LJ, Brookes AJ, Dalgleish R. VariantValidator: accurate validation, mapping, and formatting of sequence variation descriptions. Hum Mutat. 2018;39(1):61-68. doi:10.1002/humu.23348
Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7(4):248-249. doi:10.1038/nmeth0410-248
Ng PC, Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res. 2003;31(13):3812-3814. doi:10.1093/nar/gkg509
Steinhaus R, Proft S, Schuelke M, Cooper DN, Schwarz JM, Seelow D. MutationTaster2021. Nucleic Acids Res. 2021;49(W1):W446-W451. doi:10.1093/nar/gkab266
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424. doi:10.1038/gim.2015.30
Masson E, Zou WB, Génin E, et al. Expanding ACMG variant classification guidelines into a general framework. Hum Genomics. 2022;16(1):31. doi:10.1186/s40246-022-00407-x
gnomAD browser: SNV: 14-77794333-G-A (GRCh37). 01-05-2022. Accessed May 23, 2023 https://gnomad.broadinstitute.org/variant/14-77794333-G-A
Preece MA, Hardy C, Hutchin T, et al. A case of maleylacetoacetate isomerase deficiency (abstract). JIMD. 2016;3:856.
Fernández-Cañón JM, Baetscher MW, Finegold M, Burlingame T, Gibson KM, Grompe M. Maleylacetoacetate isomerase (MAAI/GSTZ)-deficient mice reveal a glutathione-dependent nonenzymatic bypass in tyrosine catabolism. Mol Cell Biol. 2002;22(13):4943-4951. doi:10.1128/MCB.22.13.4943-4951.2002
Kim SZ, Kupke KG, Ierardi-Curto L, et al. Hepatocellular carcinoma despite long-term survival in chronic tyrosinaemia I. J Inherit Metab Dis. 2000;23(8):791-804. doi:10.1023/A:1026756501669
Bliksrud YT, Brodtkorb E, Andresen PA, van den Berg IET, Kvittingen EA. Tyrosinaemia type I-De novo mutation in liver tissue suppressing an inborn splicing defect. J Mol Med. 2005;83(5):406-410. doi:10.1007/s00109-005-0648-2
Kvittingen EA, Rootwelt H, Berger R, Brandtzaeg P. Self-induced correction of the genetic defect in tyrosinemia type I. J Clin Investig. 1994;94(4):1657-1661. doi:10.1172/JCI117509
Jarvis S, Bowron A, Powers V, Pierre G. Multidisciplinary detective work prevent unnecessary and expensive lifelong treatment (abstract). Arch Dis Child. 2012;97:e18.2-e19.
James MO, Jahn SC, Zhong G, Smeltz MG, Hu Z, Stacpoole PW. Therapeutic applications of dichloroacetate and the role of glutathione transferase zeta-1. Pharmacol Ther. 2017;170:166-180. doi:10.1016/j.pharmthera.2016.10.018