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Aspartylglucosaminidase Deficiency

MedGen UID:
419178
Concept ID:
C2931840
Disease or Syndrome
Synonyms: Aspartylglucosamidase (AGA) deficiency; Glycosylasparaginase deficiency
 
OMIM®: 208400

Recent clinical studies

Etiology

Tokola AM, Åberg LE, Autti TH
J Neuroradiol 2015 Dec;42(6):345-57. Epub 2015 May 27 doi: 10.1016/j.neurad.2015.03.003. PMID: 26026191
Saito S, Ohno K, Sugawara K, Suzuki T, Togawa T, Sakuraba H
Biochem Biophys Res Commun 2008 Dec 26;377(4):1168-72. Epub 2008 Nov 4 doi: 10.1016/j.bbrc.2008.10.142. PMID: 18992224
Autti T, Lönnqvist T, Joensuu R
Acta Radiol 2008 Jul;49(6):687-92. doi: 10.1080/02841850802065000. PMID: 18568562
Arvio M, Arvio P, Hurmerinta K, Pirinen S, Sillanpää M
Acta Neurol Scand 2005 Nov;112(5):335-7. doi: 10.1111/j.1600-0404.2005.00492.x. PMID: 16218917
Arvio P, Arvio M, Wolf J, Lukinmaa PL, Saxen L, Pirinen S
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 1998 Nov;86(5):562-8. PMID: 9830648

Diagnosis

Yamamoto T, Shimojima K, Matsufuji M, Mashima R, Sakai E, Okuyama T
Brain Dev 2017 May;39(5):422-425. Epub 2017 Jan 4 doi: 10.1016/j.braindev.2016.12.004. PMID: 28063748
Arvio M, Mononen I
Orphanet J Rare Dis 2016 Dec 1;11(1):162. doi: 10.1186/s13023-016-0544-6. PMID: 27906067Free PMC Article
Opladen T, Ebinger F, Zschocke J, Sengupta D, Ben-Omran T, Shahbeck N, Moog U, Fischer C, Bürger F, Haas D, Ruef P, Harting I, Al-Rifai H, Hoffmann GF
J Child Neurol 2014 Jan;29(1):36-42. Epub 2012 Dec 26 doi: 10.1177/0883073812469049. PMID: 23271757
Ambrosetto G, Santucci M
Epilepsia 2009 Jun;50(6):1638-40. Epub 2009 Jan 21 doi: 10.1111/j.1528-1167.2008.01991.x. PMID: 19175389
Arvio M, Arvio P, Hurmerinta K, Pirinen S, Sillanpää M
Acta Neurol Scand 2005 Nov;112(5):335-7. doi: 10.1111/j.1600-0404.2005.00492.x. PMID: 16218917

Therapy

Banning A, Schiff M, Tikkanen R
Biochim Biophys Acta Mol Basis Dis 2018 Mar;1864(3):668-675. Epub 2017 Dec 13 doi: 10.1016/j.bbadis.2017.12.014. PMID: 29247835
Banning A, Gülec C, Rouvinen J, Gray SJ, Tikkanen R
Sci Rep 2016 Nov 23;6:37583. doi: 10.1038/srep37583. PMID: 27876883Free PMC Article
Dunder U, Valtonen P, Kelo E, Mononen I
J Inherit Metab Dis 2010 Oct;33(5):611-7. Epub 2010 Jul 6 doi: 10.1007/s10545-010-9158-7. PMID: 20607610
Labate A, Barone R, Gambardella A, Civitelli D, Fiumara A, Annesi G, Zappia M, Pavone L, Quattrone A
Brain Dev 2004 Mar;26(2):130-3. doi: 10.1016/S0387-7604(03)00069-X. PMID: 15036433
Arvio M, Sauna-Aho O, Peippo M
J Pediatr 2001 Feb;138(2):288-90. doi: 10.1067/mpd.2001.110119. PMID: 11174635

Prognosis

Arvio M, Arvio P, Hurmerinta K, Pirinen S, Sillanpää M
Acta Neurol Scand 2005 Nov;112(5):335-7. doi: 10.1111/j.1600-0404.2005.00492.x. PMID: 16218917
Vargas-Díez E, Chabás A, Coll MJ, Sánchez-Pérez J, García-Díez A, Fernández-Herrera JM
Br J Dermatol 2002 Oct;147(4):760-4. PMID: 12366426
Saarela J, Laine M, Oinonen C, von Schantz C, Jalanko A, Rouvinen J, Peltonen L
Hum Mol Genet 2001 Apr 15;10(9):983-95. doi: 10.1093/hmg/10.9.983. PMID: 11309371
Arvio M, Sauna-Aho O, Peippo M
J Pediatr 2001 Feb;138(2):288-90. doi: 10.1067/mpd.2001.110119. PMID: 11174635
Tenhunen K, Uusitalo A, Autti T, Joensuu R, Kettunen M, Kauppinen RA, Ikonen S, LaMarca ME, Haltia M, Ginns EI, Jalanko A, Peltonen L
J Neuropathol Exp Neurol 1998 Dec;57(12):1154-63. doi: 10.1097/00005072-199812000-00007. PMID: 9862638

Clinical prediction guides

Opladen T, Ebinger F, Zschocke J, Sengupta D, Ben-Omran T, Shahbeck N, Moog U, Fischer C, Bürger F, Haas D, Ruef P, Harting I, Al-Rifai H, Hoffmann GF
J Child Neurol 2014 Jan;29(1):36-42. Epub 2012 Dec 26 doi: 10.1177/0883073812469049. PMID: 23271757
Autti T, Lönnqvist T, Joensuu R
Acta Radiol 2008 Jul;49(6):687-92. doi: 10.1080/02841850802065000. PMID: 18568562
Saarela J, von Schantz C, Peltonen L, Jalanko A
Hum Mutat 2004 Oct;24(4):350-1. doi: 10.1002/humu.9276. PMID: 15365992
Saarela J, Laine M, Oinonen C, von Schantz C, Jalanko A, Rouvinen J, Peltonen L
Hum Mol Genet 2001 Apr 15;10(9):983-95. doi: 10.1093/hmg/10.9.983. PMID: 11309371
Uusitalo A, Tenhunen K, Heinonen O, Hiltunen JO, Saarma M, Haltia M, Jalanko A, Peltonen L
Mol Genet Metab 1999 Aug;67(4):294-307. doi: 10.1006/mgme.1999.2872. PMID: 10444340

Recent systematic reviews

Autti T, Joensuu R, Aberg L
Neuroradiology 2007 Jul;49(7):571-8. Epub 2007 Mar 3 doi: 10.1007/s00234-007-0220-6. PMID: 17334752

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