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Infantile fucosidosis

MedGen UID:
120620
•Concept ID:
C0268221
•
Disease or Syndrome
Synonyms: Fucosidosis type 1; Fucosidosis Type I; Macrocephaly, brachycephaly, depressed nasal bridge, hypertelorism, thick eyebrows/scalp hair, short stature/neck, seizures, progressive dementia
SNOMED CT: Infantile fucosidosis (61172008); Fucosidosis, type I (61172008); Fucosidosis, fatal infantile type (61172008); Fucosidosis type I (61172008)

Professional guidelines

PubMed

Prenatal diagnosis of fucosidosis.
Poenaru L, Dreyfus JC, Boué J
Monogr Hum Genet 1978;10:51-5. PMID: 723904
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

Lysosomal storage diseases.
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
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
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
An unusual presentation of fucosidosis in a Chinese boy: a case report and literature review (childhood fucosidosis).
Mao SJ, Zhao J, Shen Z, Zou CC
BMC Pediatr 2022 Jul 11;22(1):403. doi: 10.1186/s12887-022-03414-y. PMID: 35820891Free PMC Article
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
A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review.
Wali G, Wali GM, Sue CM, Kumar KR
Neuropediatrics 2019 Aug;50(4):248-252. Epub 2019 May 7 doi: 10.1055/s-0039-1684052. PMID: 31064022
Fucosidosis.
Dvoretzky I, Fisher BK
Int J Dermatol 1979 Apr;18(3):213-6. doi: 10.1111/ijd.1979.18.3.213. PMID: 110711

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
Recombinant canine alpha-l-fucosidase: expression, purification, and characterization.
Bielicki J, Muller V, Fuller M, Hopwood JJ, Anson DS
Mol Genet Metab 2000 Jan;69(1):24-32. doi: 10.1006/mgme.1999.2947. PMID: 10655154

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
Fucosidosis in a Chinese boy: a case report and literature review.
Wang L, Yang M, Hong S, Tang T, Zhuang J, Huang H
J Int Med Res 2020 Apr;48(4):300060520911269. doi: 10.1177/0300060520911269. PMID: 32238081Free PMC Article
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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