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Alpha mannosidosis type II

MedGen UID:
344488
•Concept ID:
C1855396
•
Disease or Syndrome
Synonym: Alpha mannosidosis type 2

Definition

A moderate form recognized before age ten years with presence of skeletal abnormalities, myopathy, and slow progression. [from NCBI]

Additional description

From NCBI curation
A moderate form recognized before age ten years with presence of skeletal abnormalities, myopathy, and slow progression.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.
Semeraro M, Sacchetti E, Deodato F, Coşkun T, Lay I, Catesini G, Olivieri G, Rizzo C, Boenzi S, Dionisi-Vici C
Orphanet J Rare Dis 2021 Jan 9;16(1):24. doi: 10.1186/s13023-020-01662-8. PMID: 33422100Free PMC Article

Recent clinical studies

Etiology

The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases.
Naumchik BM, Gupta A, Flanagan-Steet H, Steet RA, Cathey SS, Orchard PJ, Lund TC
Cells 2020 Jun 5;9(6) doi: 10.3390/cells9061411. PMID: 32517081Free PMC Article
Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.
Parker EI, Xing M, Moreno-De-Luca A, Harmouche E, Terk MR
Br J Radiol 2014 Jan;87(1033):20130467. Epub 2013 Nov 14 doi: 10.1259/bjr.20130467. PMID: 24234586Free PMC Article
Oligosaccharide analysis in urine by maldi-tof mass spectrometry for the diagnosis of lysosomal storage diseases.
Xia B, Asif G, Arthur L, Pervaiz MA, Li X, Liu R, Cummings RD, He M
Clin Chem 2013 Sep;59(9):1357-68. Epub 2013 May 15 doi: 10.1373/clinchem.2012.201053. PMID: 23676310
Neurological impairment in alpha-mannosidosis: a longitudinal clinical and MRI study of a brother and sister.
Ara JR, Mayayo E, Marzo ME, Guelbenzu S, Chabás A, Pina MA, Calderón C
Childs Nerv Syst 1999 Aug;15(8):369-71. doi: 10.1007/s003810050416. PMID: 10447604
Renal transplantation in a case of mannosidosis.
Segoloni GP, Colla L, Messina M, Stratta P
Transplantation 1996 Jun 15;61(11):1654-5. doi: 10.1097/00007890-199606150-00019. PMID: 8669114

Diagnosis

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
Hagemeijer MC, van den Bosch JC, Bongaerts M, Jacobs EH, van den Hout JMP, Oussoren E, Ruijter GJG
J Inherit Metab Dis 2023 Mar;46(2):206-219. Epub 2023 Feb 28 doi: 10.1002/jimd.12597. PMID: 36752951
A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.
Semeraro M, Sacchetti E, Deodato F, Coşkun T, Lay I, Catesini G, Olivieri G, Rizzo C, Boenzi S, Dionisi-Vici C
Orphanet J Rare Dis 2021 Jan 9;16(1):24. doi: 10.1186/s13023-020-01662-8. PMID: 33422100Free PMC Article
Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.
Parker EI, Xing M, Moreno-De-Luca A, Harmouche E, Terk MR
Br J Radiol 2014 Jan;87(1033):20130467. Epub 2013 Nov 14 doi: 10.1259/bjr.20130467. PMID: 24234586Free PMC Article
Neurological impairment in alpha-mannosidosis: a longitudinal clinical and MRI study of a brother and sister.
Ara JR, Mayayo E, Marzo ME, Guelbenzu S, Chabás A, Pina MA, Calderón C
Childs Nerv Syst 1999 Aug;15(8):369-71. doi: 10.1007/s003810050416. PMID: 10447604
Clinical and biochemical analysis of two families with type I and type II mannosidosis.
Bennet JK, Dembure PP, Elsas LJ
Am J Med Genet 1995 Jan 2;55(1):21-6. doi: 10.1002/ajmg.1320550108. PMID: 7702090

Therapy

Fast urinary screening of oligosaccharidoses by MALDI-TOF/TOF mass spectrometry.
Bonesso L, Piraud M, Caruba C, Van Obberghen E, Mengual R, Hinault C
Orphanet J Rare Dis 2014 Feb 6;9:19. doi: 10.1186/1750-1172-9-19. PMID: 24502792Free PMC Article
Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study.
Roces DP, Lüllmann-Rauch R, Peng J, Balducci C, Andersson C, Tollersrud O, Fogh J, Orlacchio A, Beccari T, Saftig P, von Figura K
Hum Mol Genet 2004 Sep 15;13(18):1979-88. Epub 2004 Jul 21 doi: 10.1093/hmg/ddh220. PMID: 15269179

Prognosis

Renal transplantation in a case of mannosidosis.
Segoloni GP, Colla L, Messina M, Stratta P
Transplantation 1996 Jun 15;61(11):1654-5. doi: 10.1097/00007890-199606150-00019. PMID: 8669114

Clinical prediction guides

Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
Hagemeijer MC, van den Bosch JC, Bongaerts M, Jacobs EH, van den Hout JMP, Oussoren E, Ruijter GJG
J Inherit Metab Dis 2023 Mar;46(2):206-219. Epub 2023 Feb 28 doi: 10.1002/jimd.12597. PMID: 36752951
Intestinal Epithelial Cell-specific Deletion of α-Mannosidase II Ameliorates Experimental Colitis.
Suzuki K, Yamada T, Yamazaki K, Hirota M, Ishihara N, Sakamoto M, Takahashi D, Iijima H, Hase K
Cell Struct Funct 2018 Mar 16;43(1):25-39. Epub 2018 Jan 18 doi: 10.1247/csf.17022. PMID: 29343654
Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study.
Roces DP, Lüllmann-Rauch R, Peng J, Balducci C, Andersson C, Tollersrud O, Fogh J, Orlacchio A, Beccari T, Saftig P, von Figura K
Hum Mol Genet 2004 Sep 15;13(18):1979-88. Epub 2004 Jul 21 doi: 10.1093/hmg/ddh220. PMID: 15269179
Neurological impairment in alpha-mannosidosis: a longitudinal clinical and MRI study of a brother and sister.
Ara JR, Mayayo E, Marzo ME, Guelbenzu S, Chabás A, Pina MA, Calderón C
Childs Nerv Syst 1999 Aug;15(8):369-71. doi: 10.1007/s003810050416. PMID: 10447604
Renal transplantation in a case of mannosidosis.
Segoloni GP, Colla L, Messina M, Stratta P
Transplantation 1996 Jun 15;61(11):1654-5. doi: 10.1097/00007890-199606150-00019. PMID: 8669114

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