The first Czech patient with aminoacylase I deficiency

Czech version

Authors: D. Procházková ^1,2; R. Borská ³; P. Chrastina ⁴; L. Fajkusová ^1,2; P. Konečná ¹; K. Slabá ¹; J. Šenkyřík ⁵; K. Pešková ⁴; P. Jabandžiev ¹; T. Honzík ⁴
Authors‘ workplace: Pediatrická klinika LF MU a FN Brno ¹; Ústav lékařské genetiky a genomiky, LF MU a FN Brno ²; Interní hemato-onkologická klinika, Centrum molekulární biologie a genetiky, LF MU a FN Brno ³; Klinika pediatrie a dědičných poruch metabolizmu 1. LF UK a VFN v Praze ⁴; Klinika dětské radiologie LF MU a FN Brno ⁵
Published in: Cesk Slov Neurol N 2023; 86(1): 83-85
Category: Letter to Editor
doi: 10.48095/cccsnn202383

Sources

1. Van Coster RN, Gerlo EA, Giardina TG et al. Aminoacylase I deficiency: a novel inborn error of metabolism. Biochem Biophys Res Commun 2005; 338 (3): 1322–1326. doi: 10.1016/j.bbrc.2005.10.126.

2. Sass JO, Mohr V, Olbrich H et al. Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. Am J Hum Genet 2006; 78 (3): 401–409. doi: 10.1086/500563.

3. Chen H, Wang W, Xiao C et al. ACY1 regulating PTEN/PI3K/AKT signaling in the promotion of non-small cell lung cancer progression. Ann Transl Med 2021; 9 (17): 1378. doi: 10.21037/atm-21-3127.

4. Tylki-Szymanska A, Gradowska W, Sommer A et al. Aminoacylase 1 deficiency associated with autistic behavior. J Inherit Metab Dis 2010; 33 (Suppl 3): S211–214. doi: 10.1007/s10545-010-9089-3.

5. Alessandri MG, Casarano M, Pezzini I et al. Isolated mild intellectual disability expands the aminoacylase 1 phenotype spectrum. JIMD Rep 2014; 16: 81–87. doi: 10.1007/8904_2014_323.

6. Ferri L, Funghini S, Fioravanti A et al. Aminoacylase I deficiency due to ACY1 mRNA exon skipping. Clin Genet 2014; 86 (4): 367–372. doi: 10.1111/cge.12297.

7. Sass JO, Vaithilingam J, Gemperle-Britschgi C et al. Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defict in a 63-year-old woman with generalized dystonia. Metab Brain Dis 2016; 31 (3): 587–592. doi: 10.1007/s11011-015-9778-6.

8. Alessandri MG, Milone R, Casalini C et al. Four years follow up study of ACY1 defitient patient and pedigree study. Brain Dev 2018; 40 (7): 570–575. doi: 10.1016/j.braindex.2018.03.009.

9. Chalmers RA, Lawson AM. Organic acid in man, analytical chemistry, biochemistry and diagnosis of the organic acidurias. Chapman and Hall Ltd.: London 1982.