Fucosidosis

Title

Other Names:

Alpha-l-fucosidase deficiency; Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues

Categories:

Congenital and Genetic Diseases; Heart Diseases; Metabolic disorders; Congenital and Genetic Diseases; Heart Diseases; Metabolic disorders; Musculoskeletal Diseases; Nervous System Diseases See More

Summary Summary

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.^[1] The only currently available treatment is bone marrow transplant, the results of which have been variable and need further study.^[2]

Last updated: 11/19/2013

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Anterior beaking of lumbar vertebrae		0008430
Brachycephaly	Short and broad skull	0000248
Coarse facial features	Coarse facial appearance	0000280
Dysostosis multiplex		0000943
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Generalized hyperkeratosis		0005595
Global developmental delay		0001263
Hearing impairment	Deafness Hearing defect [ more ]	0000365
Hepatomegaly	Enlarged liver	0002240
Hyperhidrosis	Excessive sweating Increased sweating Profuse sweating Sweating Sweating profusely Sweating, increased [ more ]	0000975
Hypothyroidism	Underactive thyroid	0000821
Intellectual disability, severe	Early and severe mental retardation Mental retardation, severe Severe mental retardation [ more ]	0010864
Kyphosis	Hunched back Round back [ more ]	0002808
Lipoatrophy	Loss of fat tissue in localized area	0100578
Mucopolysacchariduria		0008155
Prominent forehead	Pronounced forehead Protruding forehead [ more ]	0011220
30%-79% of people have these symptoms
Abnormality of the gallbladder		0005264
Corneal opacity		0007957
Decreased muscle mass	Underdeveloped muscles	0003199
Muscular hypotonia	Low or weak muscle tone	0001252
Seizures	Seizure	0001250
Spastic tetraplegia		0002510
Vascular skin abnormality		0011276
5%-29% of people have these symptoms
Abnormal pyramidal sign		0007256
Abnormality of the dentition	Abnormal dentition Abnormal teeth Dental abnormalities Dental abnormality [ more ]	0000164
Abnormality of the nail		0001597
Acrocyanosis	Persistent blue color of hands, feet, or parts of face	0001063
Cardiomegaly	Enlarged heart Increased heart size [ more ]	0001640
Percent of people who have these symptoms is not available through HPO
Abnormality of the abdominal wall		0004298
Absent/hypoplastic coccyx	Absent/small tailbone Absent/underdeveloped tailbone [ more ]	0008436
Absent/hypoplastic paranasal sinuses		0005453
Angiokeratoma		0001014
Anhidrosis	Lack of sweating Sweating dysfunction [ more ]	0000970
Anterior beaking of thoracic vertebrae		0004630
Autosomal recessive inheritance		0000007
Barrel-shaped chest	Barrel chest	0001552
Cerebral atrophy	Degeneration of cerebrum	0002059
Cervical platyspondyly		0004558
Coxa valga		0002673
Dry skin		0000958
Elevated sweat chloride		0012236
Flexion contracture	Flexed joint that cannot be straightened	0001371
Frontal bossing		0002007
Hernia		0100790
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Lumbar hyperlordosis	Excessive inward curvature of lower spine	0002938
Macroglossia	Abnormally large tongue Increased size of tongue Large tongue [ more ]	0000158
Oligosacchariduria		0010471
Polyneuropathy	Peripheral nerve disease	0001271
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
Scoliosis	Abnormal curving of the spine	0002650
Shield chest		0000914
Short stature	Decreased body height Small stature [ more ]	0004322
Splenomegaly	Increased spleen size	0001744
Thick eyebrow	Bushy eyebrows Dense eyebrow Heavy eyebrows Prominent eyebrows Thick eyebrows [ more ]	0000574
Thick lower lip vermilion	Increased volume of lower lip Plump lower lip Prominent lower lip [ more ]	0000179
Tortuosity of conjunctival vessels		0000503
Vacuolated lymphocytes		0001922
Wide nose	Broad nose Increased breadth of nose Increased nasal breadth Increased nasal width Increased width of nose [ more ]	0000445

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 1/1/2020

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Newborn Screening

Meikle, et al. Newborn screening for lysosomal storage disorders: Clinical evaluation of a two-tier strategy. Pediatrics 2004;114:909-916.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Fucosidosis. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

The Lysosomal Disease Network is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The Lysosomal Disease Network has a registry for patients who wish to be contacted about clinical research opportunities.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Alex The Leukodystrophy Charity (Alex TLC)
45 Peckham High Street
London, SE15 5EB United Kingdom
Telephone: 020 7701 4388
E-mail: info@alextlc.org
Website: https://www.alextlc.org
Canadian Society for Mucopolysaccharide and Related Diseases Inc. (Canadian MPS Society)
#218-2055 Commercial Drive
Vancouver, BC V5N OC7
Canada
Toll-free: 800-667-1846
Telephone: 604-924-5130
Fax: 604-924-5131
E-mail: info@mpssociety.ca
Website: http://www.mpssociety.ca
Hide and Seek Foundation for Lysosomal Storage Disease Research
6475 East Pacific Coast Highway
Suite 466
Long Beach, CA 90803
Toll-free: (844) 762-7672
E-mail: info@hideandseek.org
Website: https://hideandseek.org
National MPS Society
P.O. Box 14686
Durham, NC 27709-4686
Toll-free: 1-877-MPS-1001 (1-877-677-1001)
Telephone: +1-919-806-0101
Fax: +1-919-806-2055
E-mail: info@mpssociety.org
Website: https://mpssociety.org/
Society for Mucopolysaccharide (MPS) Diseases
MPS House Repton Place White Lion Road
Amersham Buckinghamshire
HP7 9LP
United Kingdom
Telephone: (+44) 0345 389 9901
E-mail: mps@mpssociety.co.uk
Website: http://www.mpssociety.co.uk
The International Advocates for Glycoprotein Storage Diseases (ISMRD)
20880 Canyon View Drive
Saratoga, CA 95070
E-mail: info@ismrd.org
Website: https://www.ismrd.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The American Society of Gene & Cell Therapy provides information on the treatment of lysosomal storage diseases.
Genetics Home Reference (GHR) contains information on Fucosidosis. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Fucosidosis. Click on the link to view a sample search on this topic.

News & Events News & Events

Other Conferences

2012 International Conference for Glycoprotein Storage Diseases, July 27, 2012 - July 30, 2012
Location: Crowne Plaza Hotel, Charleston, SC
Description: The International Society for Mannosidosis & Related Storage Diseases (ISMRD) is sponsoring the 2012 International Conference for Glycoprotein Storage Diseases. The Scientific/Family meetings will be held concurrently on July 28th and 29th. Alongside this meeting, they are hosting the extension of the Natural History Study, with clinic days on July 27th and 30th.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

Fucosidosis. Genetics Home Reference (GHR). December 2008; http://ghr.nlm.nih.gov/condition/fucosidosis. Accessed 11/19/2013.
Froissart R, Maire I. Fucosidosis. Orphanet. February 2005; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=349. Accessed 11/19/2013.

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