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Mannosidosis

MedGen UID:
226231
•Concept ID:
C1257960
•
Disease or Syndrome
Synonyms: Deficiency Disease, Mannosidase; Deficiency Diseases, Mannosidase; Deficiency Syndrome, Mannosidase; Deficiency Syndromes, Mannosidase; Diseases, Mannosidase Deficiency; Mannosidase Deficiency Disease; Mannosidase Deficiency Diseases; Mannosidase Deficiency Syndrome; Mannosidase Deficiency Syndromes; Mannosidoses
SNOMED CT: Mannosidosis (65524005)

Definition

A rare autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzymes alpha-D-mannosidase or beta-mannosidase. Clinical signs and symptoms include hepatomegaly, splenomegaly, hearing loss, mental retardation, skeletal abnormalities, and recurrent respiratory infections. [from NCI]

Professional guidelines

PubMed

Pharmacological Chaperones for the Treatment of α-Mannosidosis.
Rísquez-Cuadro R, Matsumoto R, Ortega-Caballero F, Nanba E, Higaki K, García Fernández JM, Ortiz Mellet C
J Med Chem 2019 Jun 27;62(12):5832-5843. Epub 2019 May 2 doi: 10.1021/acs.jmedchem.9b00153. PMID: 31017416
Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment.
Borgwardt L, Lund AM, Dali CI
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:185-91. PMID: 25345101
Clinical utility gene card for: α-mannosidosis.
Nilssen Ø, Stensland HM, Malm D
Eur J Hum Genet 2011 Jul;19(7) Epub 2011 Feb 2 doi: 10.1038/ejhg.2011.5. PMID: 21368911Free PMC Article

Recent clinical studies

Etiology

Diagnosis of alpha-Mannosidosis: Practical approaches to reducing diagnostic delays in this ultra-rare disease.
Santoro L, Cefalo G, Canalini F, Rossi S, Scarpa M
Mol Genet Metab 2024 May;142(1):108444. Epub 2024 Mar 14 doi: 10.1016/j.ymgme.2024.108444. PMID: 38555683
Pathologically relevant aldoses and environmental aldehydes cause cilium disassembly via formyl group-mediated mechanisms.
Li T, Liu M, Yu F, Yang S, Bu W, Liu K, Yang J, Ni H, Yang M, Yin H, Hong R, Li D, Zhao H, Zhou J
J Mol Cell Biol 2024 Jul 1;16(1) doi: 10.1093/jmcb/mjad079. PMID: 38059869Free PMC Article
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
Disorders of glycoprotein degradation.
Cantz M, Ulrich-Bott B
J Inherit Metab Dis 1990;13(4):523-37. doi: 10.1007/BF01799510. PMID: 2122119
Gene mapping and chromosome 19.
Shaw DJ, Brook JD, Meredith AL, Harley HG, Sarfarazi M, Harper PS
J Med Genet 1986 Feb;23(1):2-10. doi: 10.1136/jmg.23.1.2. PMID: 3081724Free PMC Article

Diagnosis

Diagnosis of alpha-Mannosidosis: Practical approaches to reducing diagnostic delays in this ultra-rare disease.
Santoro L, Cefalo G, Canalini F, Rossi S, Scarpa M
Mol Genet Metab 2024 May;142(1):108444. Epub 2024 Mar 14 doi: 10.1016/j.ymgme.2024.108444. PMID: 38555683
Long-term outcome of a cohort of Italian patients affected with alpha-Mannosidosis.
Bertolini A, Rigoldi M, Cianflone A, Mariani R, Piperno A, Canonico F, Cefalo G, Carubbi F, Simonati A, Urban ML, Beccari T, Parini R
Clin Dysmorphol 2024 Jan 1;33(1):1-8. Epub 2023 Nov 23 doi: 10.1097/MCD.0000000000000474. PMID: 37791705Free PMC Article
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
Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment.
Borgwardt L, Lund AM, Dali CI
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:185-91. PMID: 25345101
Alpha-mannosidosis.
Malm D, Nilssen Ø
Orphanet J Rare Dis 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. PMID: 18651971Free PMC Article

Therapy

Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study.
Guffon N, Konstantopoulou V, Hennermann JB, Muschol N, Bruno I, Tummolo A, Ceravolo F, Zardi G, Ballabeni A, Lund A
J Inherit Metab Dis 2023 Jul;46(4):705-719. Epub 2023 Mar 13 doi: 10.1002/jimd.12602. PMID: 36849760
Pharmacological Chaperones for the Treatment of α-Mannosidosis.
Rísquez-Cuadro R, Matsumoto R, Ortega-Caballero F, Nanba E, Higaki K, García Fernández JM, Ortiz Mellet C
J Med Chem 2019 Jun 27;62(12):5832-5843. Epub 2019 May 2 doi: 10.1021/acs.jmedchem.9b00153. PMID: 31017416
Alpha-Mannosidosis: Therapeutic Strategies.
Ceccarini MR, Codini M, Conte C, Patria F, Cataldi S, Bertelli M, Albi E, Beccari T
Int J Mol Sci 2018 May 17;19(5) doi: 10.3390/ijms19051500. PMID: 29772816Free PMC Article
Lysosomal alpha-mannosidase and alpha-mannosidosis.
Paciotti S, Codini M, Tasegian A, Ceccarini MR, Cataldi S, Arcuri C, Fioretti B, Albi E, Beccari T
Front Biosci (Landmark Ed) 2017 Jan 1;22(1):157-167. doi: 10.2741/4478. PMID: 27814608
Gene mapping and chromosome 19.
Shaw DJ, Brook JD, Meredith AL, Harley HG, Sarfarazi M, Harper PS
J Med Genet 1986 Feb;23(1):2-10. doi: 10.1136/jmg.23.1.2. PMID: 3081724Free PMC Article

Prognosis

Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study.
Guffon N, Konstantopoulou V, Hennermann JB, Muschol N, Bruno I, Tummolo A, Ceravolo F, Zardi G, Ballabeni A, Lund A
J Inherit Metab Dis 2023 Jul;46(4):705-719. Epub 2023 Mar 13 doi: 10.1002/jimd.12602. PMID: 36849760
Comprehensive cardiopulmonary assessment in α mannosidosis.
Nir V, Bentur L, Tal G, Gur M, Gut G, Ilivitzki A, Zucker-Toledano M, Hanna M, Toukan Y, Bar-Yoseph R
Pediatr Pulmonol 2020 Sep;55(9):2348-2353. Epub 2020 Jun 26 doi: 10.1002/ppul.24864. PMID: 32445542
The natural course and complications of alpha-mannosidosis--a retrospective and descriptive study.
Malm D, Riise Stensland HM, Edvardsen Ø, Nilssen Ø
J Inherit Metab Dis 2014 Jan;37(1):79-82. Epub 2013 Jun 6 doi: 10.1007/s10545-013-9622-2. PMID: 23739775
Alpha-mannosidosis: a report of 2 siblings and review of the literature.
Govender R, Mubaiwa L
J Child Neurol 2014 Jan;29(1):131-4. Epub 2013 Jan 9 doi: 10.1177/0883073812470973. PMID: 23307885
Alpha-mannosidosis.
Malm D, Nilssen Ø
Orphanet J Rare Dis 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. PMID: 18651971Free PMC Article

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
Comprehensive cardiopulmonary assessment in α mannosidosis.
Nir V, Bentur L, Tal G, Gur M, Gut G, Ilivitzki A, Zucker-Toledano M, Hanna M, Toukan Y, Bar-Yoseph R
Pediatr Pulmonol 2020 Sep;55(9):2348-2353. Epub 2020 Jun 26 doi: 10.1002/ppul.24864. PMID: 32445542
Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation.
Borgwardt L, Stensland HM, Olsen KJ, Wibrand F, Klenow HB, Beck M, Amraoui Y, Arash L, Fogh J, Nilssen Ø, Dali CI, Lund AM
Orphanet J Rare Dis 2015 Jun 6;10:70. doi: 10.1186/s13023-015-0286-x. PMID: 26048034Free PMC Article
The natural course and complications of alpha-mannosidosis--a retrospective and descriptive study.
Malm D, Riise Stensland HM, Edvardsen Ø, Nilssen Ø
J Inherit Metab Dis 2014 Jan;37(1):79-82. Epub 2013 Jun 6 doi: 10.1007/s10545-013-9622-2. PMID: 23739775
Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
Michalski JC, Klein A
Biochim Biophys Acta 1999 Oct 8;1455(2-3):69-84. doi: 10.1016/s0925-4439(99)00077-0. PMID: 10571005

Recent systematic reviews

Decreased T2 signal in the thalami may be a sign of lysosomal storage disease.
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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