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Juvenile fucosidosis

MedGen UID:
78648
•Concept ID:
C0268222
•
Disease or Syndrome
Synonyms: Fucosidosis Type II; Fucosidosis, Juvenile; Juvenile Fucosidosis
SNOMED CT: Juvenile fucosidosis (399045007); Fucosidosis, juvenile form (399045007); Fucosidosis type II (399045007); Childhood fucosidosis (399045007); Fucosidosis, type II (399045007)

Professional guidelines

PubMed

Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases.
Krivit W
Springer Semin Immunopathol 2004 Nov;26(1-2):119-32. Epub 2004 Sep 25 doi: 10.1007/s00281-004-0166-2. PMID: 15452666
Prenatal diagnosis of fucosidosis.
Poenaru L, Dreyfus JC, Boue J, Nicolesco H, Ravise N, Bamberger J
Clin Genet 1976 Nov;10(5):260-4. doi: 10.1111/j.1399-0004.1976.tb00046.x. PMID: 991436
Prenatal diagnosis of fucosidosis.
Matsuda I, Arashima S, Oka Y, Mitsuyama T, Ariga S
Clin Chim Acta 1975 Aug 18;63(1):55-60. doi: 10.1016/0009-8981(75)90378-2. PMID: 1181074

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
Therapy Development for the Lysosomal Storage Disease Fucosidosis using the Canine Animal Model.
Fletcher JL, Taylor RM
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:697-706. PMID: 27491218
Advances and pitfalls of cell therapy in metabolic leukodystrophies.
Miranda CO, Brites P, Mendes Sousa M, Teixeira CA
Cell Transplant 2013;22(2):189-204. Epub 2012 Sep 21 doi: 10.3727/096368912X656117. PMID: 23006656
Mutations in fucosidosis gene: a review.
Tiberio G, Filocamo M, Gatti R, Durand P
Acta Genet Med Gemellol (Roma) 1995;44(3-4):223-32. doi: 10.1017/s0001566000001641. PMID: 8739734
Disorders of glycoprotein degradation.
Cantz M, Ulrich-Bott B
J Inherit Metab Dis 1990;13(4):523-37. doi: 10.1007/BF01799510. PMID: 2122119

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
Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series.
Stepien KM, Ciara E, Jezela-Stanek A
Genes (Basel) 2020 Nov 22;11(11) doi: 10.3390/genes11111383. PMID: 33266441Free PMC Article
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
Fucosidosis.
Dvoretzky I, Fisher BK
Int J Dermatol 1979 Apr;18(3):213-6. doi: 10.1111/ijd.1979.18.3.213. PMID: 110711
Prenatal diagnosis of fucosidosis.
Poenaru L, Dreyfus JC, Boue J, Nicolesco H, Ravise N, Bamberger J
Clin Genet 1976 Nov;10(5):260-4. doi: 10.1111/j.1399-0004.1976.tb00046.x. PMID: 991436

Therapy

Tandem mass spectrometry-based multiplex assays for α-mannosidosis and fucosidosis.
Kumar AB, Hong X, Yi F, Wood T, Gelb MH
Mol Genet Metab 2019 Jul;127(3):207-211. Epub 2019 Jun 10 doi: 10.1016/j.ymgme.2019.05.016. PMID: 31235216Free PMC Article
Therapy Development for the Lysosomal Storage Disease Fucosidosis using the Canine Animal Model.
Fletcher JL, Taylor RM
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:697-706. PMID: 27491218
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
Advances and pitfalls of cell therapy in metabolic leukodystrophies.
Miranda CO, Brites P, Mendes Sousa M, Teixeira CA
Cell Transplant 2013;22(2):189-204. Epub 2012 Sep 21 doi: 10.3727/096368912X656117. PMID: 23006656
Genetic and demographic characterization of a population with high incidence of fucosidosis.
Sangiorgi S, Mochi M, Beretta M, Prosperi L, Costantino G, Romeo G
Hum Hered 1982;32(2):100-5. doi: 10.1159/000153267. PMID: 7095811

Prognosis

Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.
Chkioua L, Amri Y, Chaima S, Fenni F, Boudabous H, Ben Turkia H, Messaoud T, Tebib N, Laradi S
BMC Med Genomics 2021 Aug 23;14(1):208. doi: 10.1186/s12920-021-01061-3. PMID: 34425818Free PMC Article
Therapy Development for the Lysosomal Storage Disease Fucosidosis using the Canine Animal Model.
Fletcher JL, Taylor RM
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:697-706. PMID: 27491218
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
Mutations in fucosidosis gene: a review.
Tiberio G, Filocamo M, Gatti R, Durand P
Acta Genet Med Gemellol (Roma) 1995;44(3-4):223-32. doi: 10.1017/s0001566000001641. PMID: 8739734
Fucosidosis revisited: a review of 77 patients.
Willems PJ, Gatti R, Darby JK, Romeo G, Durand P, Dumon JE, O'Brien JS
Am J Med Genet 1991 Jan;38(1):111-31. doi: 10.1002/ajmg.1320380125. PMID: 2012122

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
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.
Chkioua L, Amri Y, Chaima S, Fenni F, Boudabous H, Ben Turkia H, Messaoud T, Tebib N, Laradi S
BMC Med Genomics 2021 Aug 23;14(1):208. doi: 10.1186/s12920-021-01061-3. PMID: 34425818Free PMC Article
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
Spectrum of mutations in fucosidosis.
Willems PJ, Seo HC, Coucke P, Tonlorenzi R, O'Brien JS
Eur J Hum Genet 1999 Jan;7(1):60-7. doi: 10.1038/sj.ejhg.5200272. PMID: 10094192
Fucosidosis revisited: a review of 77 patients.
Willems PJ, Gatti R, Darby JK, Romeo G, Durand P, Dumon JE, O'Brien JS
Am J Med Genet 1991 Jan;38(1):111-31. doi: 10.1002/ajmg.1320380125. PMID: 2012122

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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