Fucosidosis

Common Name(s)

Fucosidosis

Fucosidosis is a lysosomal storage disease that affects many areas of the body, especially the brain. Affected individuals have intellectual disability that worsens with age, and many develop dementia later in life. People with this condition often have delayed development of motor skills such as walking, and the skills they do acquire often deteriorate over time. In severe cases, symptoms appear in infancy; in milder cases, symptoms begin at age 1 or 2. Fucosidosis is caused by mutations in the FUCA1 gene. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The only currently available treatment is bone marrow transplant, the results of which have been variable and need further study.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Fucosidosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Fucosidosis" returned 26 free, full-text research articles on human participants. First 3 results:

Skeletal and Brain Abnormalities in Fucosidosis, a Rare Lysosomal Storage Disorder.
 

Author(s): Camille Malatt, Jeffrey L Koning, John Naheedy

Journal:

 

Fucosidosis is a rare genetic lysosomal storage disorder caused by a deficiency in alpha- L-fucosidase. We present a case of a 4-year, 11-month-old girl with developmental delay, as well as skeletal and brain abnormalities as shown on X-ray and MRI. Her spinal X- rays demonstrated ...

Last Updated: 1 Dec 2015

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A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings.
 

Author(s): Esra Kılıç, Mustafa Kılıç, G Eda Ütine, Serap Sivri, Turgay Coskun, Yasemin Alanay

Journal: Turk. J. Pediatr.. ;56(4):430-3.

 

Fucosidosis is a rare autosomal recessive lysosomal storage disorder in which fucose-containing glycolipids, glycoproteins and oligosaccharides accumulate in tissues, as a result of a deficiency of α-L-fucosidase. In this report we describe clinical, dysmorphological and radiological ...

Last Updated: 30 Mar 2015

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High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba.
 

Author(s): C Menéndez-Sainz, A González-Quevedo, S González-García, M Peña-Sánchez, R Giugliani

Journal:

 

Although lysosomal storage disorders (LSDs) are considered individually rare, as a group they present a non-negligible frequency. Few studies have been made of populational occurrence of LSDs; they have been conducted predominantly on Caucasian populations. We studied the occurrence ...

Last Updated: 22 Aug 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Fucosidosis" returned 2 free, full-text review articles on human participants. First 3 results:

Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency.
 

Author(s): J C Michalski, A Klein

Journal: Biochim. Biophys. Acta. 1999 Oct;1455(2-3):69-84.

 

Glycoproteinoses belong to the lysosomal storage disorders group. The common feature of these diseases is the deficiency of a lysosomal protein that is part of glycan catabolism. Most of the lysosomal enzymes involved in the hydrolysis of glycoprotein carbohydrate chains are exo-glycosidases, ...

Last Updated: 8 Dec 1999

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Spectrum of mutations in fucosidosis.
 

Author(s): P J Willems, H C Seo, P Coucke, R Tonlorenzi, J S O'Brien

Journal: Eur. J. Hum. Genet.. 1999 Jan;7(1):60-7.

 

Fucosidosis is a lysosomal storage disorder characterised by progressive psychomotor deterioration, angiokeratoma and growth retardation. It is due to deficient alpha-l-fucosidase activity leading to accumulation of fucose-containing glycolipids and glycoproteins in various tissues. ...

Last Updated: 13 May 1999

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis I; Mucopolysaccharidosis II; Mucopolysaccharidosis VI; Mucopolysaccharidosis VII; Hurler Syndrome; Hunter Syndrome; Maroteaux Lamy Syndrome; Sly Syndrome; Glycoprotein Metabolic Disorders; Alpha Mannosidosis; Fucosidosis; Aspartylglucosaminuria; Adrenoleukodystrophy; Peroxisomal Disorders; Osteopetrosis; Sphingolipidosis; Gangliosidosis; Globoid Cell Leukodystrophy; Metachromatic Leukodystrophy; Niemann Pick B; Niemann Pick C Subtype 2; I-cell Disease

 

Last Updated: 15 Aug 2016

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Longitudinal Studies of the Glycoproteinoses
 

Status: Recruiting

Condition Summary: Aspartylglucosaminuria; Fucosidosis; Galactosialidosis; Alpha Mannosidosis; Beta Mannosidosis; Mucolipidosis II; Mucolipidosis III; Schindler Disease; Sialidosis

 

Last Updated: 9 Sep 2014

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Human Placental-Derived Stem Cell Transplantation
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis I; Mucopolysaccharidosis VI; Adrenoleukodystrophy; Niemann-Pick Disease; Metachromatic Leukodystrophy; Wolman Disease; Krabbe's Disease; Gaucher's Disease; Fucosidosis; Batten Disease; Severe Aplastic Anemia; Diamond-Blackfan Anemia; Amegakaryocytic Thrombocytopenia; Myelodysplastic Syndrome; Acute Myelogenous Leukemia; Acute Lymphocytic Leukemia

 

Last Updated: 29 Jul 2016

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