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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

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
Borgwardt L, Lund AM, Dali CI
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:185-91. PMID: 25345101
Krivit W, Peters C, Shapiro EG
Curr Opin Neurol 1999 Apr;12(2):167-76. doi: 10.1097/00019052-199904000-00007. PMID: 10226749

Recent clinical studies

Etiology

Burlina AP, Manara R, Gueraldi D
Handb Clin Neurol 2024;204:147-172. doi: 10.1016/B978-0-323-99209-1.00008-9. PMID: 39322377
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
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
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
Cantz M, Ulrich-Bott B
J Inherit Metab Dis 1990;13(4):523-37. doi: 10.1007/BF01799510. PMID: 2122119

Diagnosis

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
Borgwardt L, Lund AM, Dali CI
Pediatr Endocrinol Rev 2014 Sep;12 Suppl 1:185-91. PMID: 25345101
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
Malm D, Nilssen Ø
Orphanet J Rare Dis 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. PMID: 18651971Free PMC Article
Ockerman PA, Autio S, Norden NE
Lancet 1973 Jan 27;1(7796):207-8. doi: 10.1016/s0140-6736(73)90045-7. PMID: 4118828

Therapy

Abdul Ghani S, Burney S, Ul Hussain H, Abdul Wahid M, Mumtaz H
Int J Surg 2023 Sep 1;109(9):2882-2885. doi: 10.1097/JS9.0000000000000528. PMID: 37352513Free PMC Article
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
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
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
Arbisser AI, Scott CI Jr, Howell BR
Lancet 1976 Feb 7;1(7954):312-3. doi: 10.1016/s0140-6736(76)91454-9. PMID: 55632

Prognosis

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
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
Govender R, Mubaiwa L
J Child Neurol 2014 Jan;29(1):131-4. Epub 2013 Jan 9 doi: 10.1177/0883073812470973. PMID: 23307885
Malm D, Nilssen Ø
Orphanet J Rare Dis 2008 Jul 23;3:21. doi: 10.1186/1750-1172-3-21. PMID: 18651971Free PMC Article
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

Clinical prediction guides

Ługowska A
Cells 2024 Oct 8;13(19) doi: 10.3390/cells13191664. PMID: 39404425Free PMC Article
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
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
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
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

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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