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Fucosidosis

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An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)

Also Known As:

Deficiency Disease, alpha-Fucosidase; Deficiency Disease, alpha-L-Fucosidase; Fucosidosis Type 1; Fucosidosis Type I; Fucosidosis Type II; Fucosidosis, Infantile; Fucosidosis, Juvenile; alpha-Fucosidase Deficiency Disease; alpha-L-Fucosidase Deficiency; alpha-L-Fucosidase Deficiency Disease; 1, Fucosidosis Type; Deficiency Disease, Fucosidase; Deficiency Disease, alpha Fucosidase; Deficiency Disease, alpha L Fucosidase; Deficiency Diseases, Fucosidase; Deficiency Diseases, alpha-Fucosidase; Deficiency Diseases, alpha-L-Fucosidase; Disease, Fucosidase Deficiency; Disease, alpha-Fucosidase Deficiency; Disease, alpha-L-Fucosidase Deficiency; Diseases, Fucosidase Deficiency; Diseases, alpha-Fucosidase Deficiency; Diseases, alpha-L-Fucosidase Deficiency; Fucosidase Deficiency Diseases; Fucosidosis Type 1s; Infantile Fucosidosis; Juvenile Fucosidosis; Type 1, Fucosidosis; Type 1s, Fucosidosis; alpha Fucosidase Deficiency Disease; alpha L Fucosidase Deficiency Disease; alpha-Fucosidase Deficiency Diseases; alpha-L-Fucosidase Deficiency Diseases; Fucosidase Deficiency Disease

Networked: 134 relevant articles (3 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Mannosidase Deficiency Diseases (Mannosidosis)
2.	Metachromatic Leukodystrophy (Sulfatide Lipidosis)
3.	Globoid Cell Leukodystrophy (Krabbe Disease)
4.	Gaucher Disease (Gaucher's Disease)
5.	Aspartylglucosaminuria

Experts

1.	Williamson, Peter: 3 articles (01/2015 - 08/2011)
2.	Hopwood, John J: 3 articles (01/2015 - 10/2005)
3.	Kondagari, Gauthami Sudhamayee: 2 articles (01/2015 - 01/2011)
4.	Taylor, Rosanne M: 2 articles (11/2011 - 08/2011)
5.	Kondagari, Gauthami S: 2 articles (11/2011 - 08/2011)
6.	Thomson, Peter C: 2 articles (11/2011 - 08/2011)
7.	Clements, Peter R: 2 articles (08/2011 - 10/2005)
8.	Datar, Chaitanya: 1 article (12/2015)
9.	Bhavsar, Riddhi: 1 article (12/2015)
10.	Sheth, Frenny: 1 article (12/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Fucosidosis:

1.	alpha-L-Fucosidase (Fucosidase)IBA 11/27/1985 - "Studies on fibroblasts from patients with less than 5% of normal alpha-L-fucosidase activity (fucosidosis) showed 8 of 11 patients synthesized no detectable alpha-fucosidase protein whereas 2 synthesized normal amounts of 53,000 dalton precursor, none of the mature 50,000 dalton form was detectable and one contained small amounts of cross-reacting material. " 04/01/1980 - "Mixing studies indicated that the liver of the fucosidosis patient did not lack activators or contain inhibitors of alpha-l-fucosidase activity. " 05/01/2015 - "Fucosidosis is a rare genetic lysosomal storage disorder caused by a deficiency in alpha- L-fucosidase. " 01/01/2015 - "The naturally occurring dog model of fucosidosis was used to evaluate the neuropathological responses to partial enzyme replacement, and substrate reduction in early disease following treatment with recombinant canine α-L-fucosidase delivered through cerebrospinal fluid. " 05/01/2014 - "Fucosidosis is a rare lysosomal storage disorder due to deficiency of fucosidase enzyme, with around 100 cases reported worldwide. "
2.	Neuraminidase deficiency with beta-galactosidase deficiencyIBA 12/01/1995 - "Fucosidosis and galactosialidosis are next well known diseases to produce angiokeratoma. " 09/01/2013 - "We identified diagnostic urinary FOS patterns for α-mannosidosis, galactosialidosis, mucolipidosis type II/III, sialidosis, α-fucosidosis, aspartylglucosaminuria (AGU), Pompe disease, Gaucher disease, and GM1 and GM2 gangliosidosis. " 01/01/2013 - "Subsequently, elevation was also observed in various lysosomal storage disorders such as fucosidosis, galactosialidosis and glycogen storage disease type IV. The aim of the present study was to evaluate plasma chitotriosidase activity in 19 children with glycogen storage disease type I. Plasma chitotriosidase levels were found to be significantly higher in children with GSD type I than healthy age-matched controls (21.3 ± 16.4 vs. 12.3 ± 8.9 nmol/h/mL, p=0.04). " 02/07/2011 - "Samples from patients previously diagnosed with I-Cell disease, mannosidosis, Pompe, galactosialidosis, and fucosidosis were derivatized with 3-methyl-1-phenyl-2-pyrazolin-5-one and subjected to analysis by liquid chromatography tandem mass spectrometry. " 01/01/1990 - "This paper presents an overview of the biochemistry and the clinical spectrum of this group of diseases including sialidosis, galactosialidosis, alpha- and beta-mannosidosis, fucosidosis, aspartylglucosaminuria, and alpha-N-acetylgalactosaminidase deficiency (Schindler disease). "
3.	CeroidIBA 12/09/2015 - "Neuronal ceroid lipofucinosis1 and 2 (7.4%), mucolipidosis-II/III (1%), Sialic acid storage disorder (1%), Niemann-Pick disease type-C (1%) and Fucosidosis (0.3%) were observed with less frequency. " 10/01/2007 - "Lysosomal diseases were classified into 3 groups: (1) leukodystrophies (metachromatic leukodystrophy, Krabbe's disease and Salla's disease); (2) Neurodegenerative or psychiatric-like diseases (GM1 and GM2 gangliosidoses, Niemann Pick type C disease, sialidosis type I, ceroid-lipofuscinosis, mucopolysaccharidosis type III); (3) multisystemic diseases (Gaucher's disease, Fabry's disease, alpha and B mannosidosis, Niemann Pick disease type B, fucosidosis, Schindler/Kanzaki disease, and mucopolysaccharidosis type I and II. We propose a diagnostic approach guided by clinical examination, brain MRI, electrodiagnostic studies and abdominal echography."
4.	chitotriosidaseIBA 01/01/2004 - "Furthermore, increased plasma chitotriosidase activity, 10-53 times the normal median value, was also observed in fucosidosis, glycogen storage disease type IV, Alagille syndrome and hydrops fetalis due to congenital herpes virus infection." 01/01/2013 - "Subsequently, elevation was also observed in various lysosomal storage disorders such as fucosidosis, galactosialidosis and glycogen storage disease type IV. The aim of the present study was to evaluate plasma chitotriosidase activity in 19 children with glycogen storage disease type I. Plasma chitotriosidase levels were found to be significantly higher in children with GSD type I than healthy age-matched controls (21.3 ± 16.4 vs. 12.3 ± 8.9 nmol/h/mL, p=0.04). "
5.	Kanzaki diseaseIBA 10/01/2007 - "Lysosomal diseases were classified into 3 groups: (1) leukodystrophies (metachromatic leukodystrophy, Krabbe's disease and Salla's disease); (2) Neurodegenerative or psychiatric-like diseases (GM1 and GM2 gangliosidoses, Niemann Pick type C disease, sialidosis type I, ceroid-lipofuscinosis, mucopolysaccharidosis type III); (3) multisystemic diseases (Gaucher's disease, Fabry's disease, alpha and B mannosidosis, Niemann Pick disease type B, fucosidosis, Schindler/Kanzaki disease, and mucopolysaccharidosis type I and II. We propose a diagnostic approach guided by clinical examination, brain MRI, electrodiagnostic studies and abdominal echography."
6.	FucoseIBA 08/01/2010 - "Fucosidosis is a rare lysosomal storage disorder that results in the deposition of the sugar fucose within various organs, including the central nervous system. " 01/01/1985 - "Since UEA-I specifically binds to terminal fucose residues, and fucose-rich undegraded metabolites are stored in affected cells of both human and canine fucosidosis, the variable lectin staining pattern demonstrates an unexpected species-specific histochemical variability. " 01/01/1979 - "Fucosidosis fibroblasts were shown to accumulate low molecular-weight, fucose-containing compounds to a level several times greater than control cells. " 09/01/1976 - "Incorporation of tritiated fucose into the acid-soluble and acid-insoluble fractions of cultured fucosidosis and control fibroblast monolayers was determined over a 10-day period. " 09/01/1976 - "Cultured fucosidosis fibroblasts: a simple technique demonstrating storage of tritiated-fucose labeled material."
7.	OligosaccharidesIBA 06/01/1994 - "HPLC detected no abnormal oligosaccharides in urine from patients with fucosidosis. " 04/25/1985 - "The behavior of oligosaccharides isolated from human milk and the urine of patients with fucosidosis indicated that the oligosaccharides with Fuc alpha 1----2Gal beta 1----4GlcNAc and Gal beta 1----4(Fuc alpha 1----3)GlcNAc groups interact with the lectin, but less strongly than complex-type sugar chains with a fucosylated core. " 06/01/2012 - "Here, we have used capillary high-performance anion-exchange chromatography (HPAEC) hyphenated to mass spectrometry to analyze free oligosaccharides from urine samples of patients suffering from the lysosomal storage disorders fucosidosis, α-mannosidosis, G(M1)-gangliosidosis, G(M2)-gangliosidosis, and sialidosis. " 10/16/1989 - "The human lysosomal storage disorder fucosidosis results from the deficiency of alpha-L-fucosidase, a lysosomal enzyme essential for the catabolism of oligosaccharides containing alpha-L-fucosides. " 03/01/1983 - "The diagnosis was established by demonstrating complete alpha-L-fucosidase deficiency in the patients' liver as well as an increased excretion of oligosaccharides in the urine and an absence of alpha-L-fucosidase activity in skin fibroblasts of one patient. "
8.	Glycoproteins (Glycoprotein)IBA 06/01/1989 - "Intracellular and extracellular enzyme forms in fucosidosis and control cell lines were glycoproteins containing polypeptide chains of Mr = 52,000. " 12/01/1984 - "We studied 22 cases of glycoprotein storage diseases and differentiated histochemically between alpha- and beta-mannosidosis, fucosidosis, and sialisidosis. " 04/01/1971 - "Fucosidosis and mannosidosis, glycoprotein and glycosylceramide storage diseases." 01/01/1991 - "Fucosidosis is caused by a deficiency of the lysosomal enzyme alpha-L-fucosidase (ALF) leading to an accumulation of glycoproteins in a variety of cells. " 10/08/1999 - "This review provides details on clinical features, genotype-phenotype correlations, enzymology and biochemical storage of four human glycoprotein lysosomal storage disorders, respectively alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. "
9.	Complementary DNA (cDNA)IBA 10/01/2007 - "We present the MR imaging findings of diffuse white-matter hyperintensity and pallidal curvilinear streak hyperintensity in a 6-year-old Caucasian girl with a diagnosis of fucosidosis based on cDNA isolated from skin fibroblasts. " 04/01/1996 - "A 14 base pair deletion of the cDNA was identified at the 3' end of exon 1 in fucosidosis affected animals. " 04/01/1996 - "Isolation of the canine alpha-L-fucosidase cDNA and definition of the fucosidosis mutation in English Springer Spaniels." 02/01/1985 - "A lambda gt11 human hepatoma cDNA expression library was screened with antibodies to human alpha-L-fucosidase, a lysosomal enzyme whose activity is deficient in the human autosomal recessive disease fucosidosis. " 04/01/1989 - "Genomic DNA and mRNA from six unrelated Italian patients affected with fucosidosis were analyzed using two probes (AF3 and AF11B) of partial length cDNA coding for the lysosomal enzyme alpha-L-fucosidase. "
10.	Messenger RNA (mRNA)IBA 04/01/1989 - "Heterogeneity of mRNA expression in Italian fucosidosis patients." 01/01/1987 - "Analysis of mRNA by Northern blotting gives a major species of 2.25 kb. In 4 patients with fucosidosis no mRNA signal was detected and Western blots gave no immunoreactive enzyme. " 04/01/1996 - "Fucosidosis dogs were found to have a greatly reduced level of alpha-L-fucosidase mRNA when compared with normal dogs by Northern blot analysis. " 10/20/1993 - "Lymphoid cell lines from two siblings with fucosidosis and a healthy individual (control) had alpha-L-fucosidase mRNA of normal size (2.3 kb) but the level of alpha-L-fucosidase mRNA in the patients' cells was reduced. " 12/15/1992 - "Lymphoid cell lines from a fucosidosis patient (JT) and a healthy individual (control) contained alpha-L-fucosidase mRNA of the same size, 2.3 Kb, as determined by Northern blot analysis. "

Therapies and Procedures

1.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 08/01/2011 - "The capacity of early ERT to modify progression of biochemical storage in fucosidosis is promising as this disease is currently only amenable to treatment by bone marrow transplantation which entails unacceptably high risks for many patients." 04/01/2001 - "Four year follow-up of a case of fucosidosis treated with unrelated donor bone marrow transplantation." 01/01/1995 - "We believe this to be the first case of human fucosidosis treated by bone marrow transplantation." 01/01/1995 - "Bone marrow transplantation was performed on an 8-month-old boy who was diagnosed as having fucosidosis following the diagnosis of the disease in his older brother. " 01/01/1995 - "Allogeneic bone marrow transplantation for fucosidosis."
2.	Enzyme Replacement Therapy 01/01/2000 - "The availability of large amounts of rcFUC will allow us to explore ways of extending the proven efficacy of enzyme replacement therapy to the treatment of central nervous system pathology using the fucosidosis dog as a model system." 11/01/2011 - "To elucidate these processes the gene expression profile of the cerebral cortex from untreated and intrathecal enzyme replacement therapy treated fucosidosis pups and age-matched unaffected controls were examined. " 10/15/1990 - "Thus, galaptin-alpha-L-fucosidase conjugates may be useful for enzyme replacement therapy of fucosidosis. "
3.	Transplants (Transplant) 10/01/1989 - "Improvement in the neurologic signs and storage lesions of fucosidosis in dogs given marrow transplants at an early age."
4.	Lymphatic Irradiation 07/01/1997 - "Fucosidosis affected allogeneic or autologous canine marrow was transduced ex vivo by cocultivation, then transplanted into fucosidosis affected dogs conditioned with total lymphoid irradiation. " 02/01/1987 - "Lysosomal enzyme replacement in neural tissue by allogeneic bone marrow transplantation following total lymphoid irradiation in canine fucosidosis." 04/01/1986 - "Correction of enzyme deficiency by allogeneic bone marrow transplantation following total lymphoid irradiation in dogs with lysosomal storage disease (fucosidosis)."
5.	Anesthesia 10/01/2007 - "Anesthesia for fucosidosis." 09/01/2007 - "Fucosidosis and anesthesia."