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Inborn aminoacylase deficiency

MedGen UID:
1842952
•Concept ID:
C5681074
•
Disease or Syndrome
Synonyms: aminoacylase deficiency; Aminoacylase deficiency; inborn aminoacylase activity disorder; inborn aminoacylase deficiency; inborn error of aminoacylase activity; rare inborn error of aminoacylase activity
 
Monarch Initiative: MONDO:0017686
Orphanet: ORPHA308448

Definition

An inherited metabolic disease that is has its basis in the disruption of aminoacylase activity. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Inborn aminoacylase deficiency

Recent clinical studies

Etiology

Four years follow up of ACY1 deficient patient and pedigree study.
Alessandrì MG, Milone R, Casalini C, Nesti C, Cioni G, Battini R
Brain Dev 2018 Aug;40(7):570-575. Epub 2018 Apr 10 doi: 10.1016/j.braindev.2018.03.009. PMID: 29653693

Diagnosis

Four years follow up of ACY1 deficient patient and pedigree study.
Alessandrì MG, Milone R, Casalini C, Nesti C, Cioni G, Battini R
Brain Dev 2018 Aug;40(7):570-575. Epub 2018 Apr 10 doi: 10.1016/j.braindev.2018.03.009. PMID: 29653693
Qualitative urinary organic acid analysis: 10 years of quality assurance.
Peters V, Bonham JR, Hoffmann GF, Scott C, Langhans CD
J Inherit Metab Dis 2016 Sep;39(5):683-687. Epub 2016 May 4 doi: 10.1007/s10545-016-9941-1. PMID: 27146437
Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia.
Sass JO, Vaithilingam J, Gemperle-Britschgi C, Delnooz CC, Kluijtmans LA, van de Warrenburg BP, Wevers RA
Metab Brain Dis 2016 Jun;31(3):587-92. Epub 2015 Dec 19 doi: 10.1007/s11011-015-9778-6. PMID: 26686503
Aminoacylase 1 deficiency associated with autistic behavior.
Tylki-Szymanska A, Gradowska W, Sommer A, Heer A, Walter M, Reinhard C, Omran H, Sass JO, Jurecka A
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S211-4. Epub 2010 May 18 doi: 10.1007/s10545-010-9089-3. PMID: 20480396
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.
Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT, Schweitzer-Krantz S, Moebus R, Weiler P, Kispert A, Superti-Furga A, Wevers RA, Omran H
Am J Hum Genet 2006 Mar;78(3):401-9. Epub 2006 Jan 18 doi: 10.1086/500563. PMID: 16465618Free PMC Article

Prognosis

Four years follow up of ACY1 deficient patient and pedigree study.
Alessandrì MG, Milone R, Casalini C, Nesti C, Cioni G, Battini R
Brain Dev 2018 Aug;40(7):570-575. Epub 2018 Apr 10 doi: 10.1016/j.braindev.2018.03.009. PMID: 29653693
Aminoacylase 1 deficiency associated with autistic behavior.
Tylki-Szymanska A, Gradowska W, Sommer A, Heer A, Walter M, Reinhard C, Omran H, Sass JO, Jurecka A
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S211-4. Epub 2010 May 18 doi: 10.1007/s10545-010-9089-3. PMID: 20480396
Aminoacylase I deficiency: a novel inborn error of metabolism.
Van Coster RN, Gerlo EA, Giardina TG, Engelke UF, Smet JE, De Praeter CM, Meersschaut VA, De Meirleir LJ, Seneca SH, Devreese B, Leroy JG, Herga S, Perrier JP, Wevers RA, Lissens W
Biochem Biophys Res Commun 2005 Dec 23;338(3):1322-6. Epub 2005 Nov 2 doi: 10.1016/j.bbrc.2005.10.126. PMID: 16274666

Clinical prediction guides

Aminoacylase I deficiency due to ACY1 mRNA exon skipping.
Ferri L, Funghini S, Fioravanti A, Biondi EG, la Marca G, Guerrini R, Donati MA, Morrone A
Clin Genet 2014 Oct;86(4):367-72. Epub 2013 Nov 18 doi: 10.1111/cge.12297. PMID: 24117009
Aminoacylase 1 deficiency associated with autistic behavior.
Tylki-Szymanska A, Gradowska W, Sommer A, Heer A, Walter M, Reinhard C, Omran H, Sass JO, Jurecka A
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S211-4. Epub 2010 May 18 doi: 10.1007/s10545-010-9089-3. PMID: 20480396
NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.
Engelke UF, Sass JO, Van Coster RN, Gerlo E, Olbrich H, Krywawych S, Calvin J, Hart C, Omran H, Wevers RA
NMR Biomed 2008 Feb;21(2):138-47. doi: 10.1002/nbm.1170. PMID: 17516490
Aminoacylase I deficiency: a novel inborn error of metabolism.
Van Coster RN, Gerlo EA, Giardina TG, Engelke UF, Smet JE, De Praeter CM, Meersschaut VA, De Meirleir LJ, Seneca SH, Devreese B, Leroy JG, Herga S, Perrier JP, Wevers RA, Lissens W
Biochem Biophys Res Commun 2005 Dec 23;338(3):1322-6. Epub 2005 Nov 2 doi: 10.1016/j.bbrc.2005.10.126. PMID: 16274666

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