Fucosidosis

Common Name(s)

Fucosidosis

Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. Clinical features include angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facial features, and dysostosis multiplex. Fucosidosis has been classified into 2 major types. Type 1 is characterized by rapid psychomotor regression and severe neurologic deterioration beginning at about 6 months of age, elevated sweat sodium chloride, and death within the first decade of life. Type 2 is characterized by milder psychomotor retardation and neurologic signs, the development of angiokeratoma corporis diffusum, normal sweat salinity, and longer survival ({17:Kousseff et al., 1976}).
 

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Condition Specific Organizations

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

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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 25 free, full-text research articles on human participants. First 3 results:

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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Diagnosis of fucosidosis through a skin rash.
 

Author(s): Akihiro Tsukadaira, Yoshiki Hirose, Hajime Aoki, Kazuo Ichikawa, Akihiro Sakurai, Masao Fukuzawa

Journal: Intern. Med.. 2005 Aug;44(8):907-8.

 

Last Updated: 13 Sep 2005

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Fucosidosis with hypothyroidism: a case report.
 

Author(s): Neslihan Onenli-Mungan, Güler Ozer, Sakir Altunbaşak, Guy Besley, Bilgin Yüksel, Ali Kemal Topaloğlu, Süreyya Soyupak

Journal: Turk. J. Pediatr.. ;46(2):170-3.

 

Fucosidosis is a rare, autosomal recessive lysosomal storage disorder caused by a severe deficiency of alpha-L-fucosidase. Here we present a 27-month-old male who was referred to us for evaluation of developmental delay, which was first detected at age six months. His past medical ...

Last Updated: 24 Jun 2004

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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 1 free, full-text review articles on human participants. First 3 results:

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

Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells
 

Status: Recruiting

Condition Summary: Sickle Cell Disease; Thalassemia; Anemia; Granuloma; Wiskott-Aldrich Syndrome; Chediak Higashi Syndrome; Osteopetrosis; Neutropenia; Thrombocytopenia; Hurler Disease; Niemann-Pick Disease; Fucosidosis

 

Last Updated: 22 Jun 2011

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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: 28 Jun 2013

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Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
 

Status: Recruiting

Condition Summary: Mucopolysaccharidosis; Hurler Syndrome; Hunter Syndrome; Maroteaux-Lamy Syndrome; Sly Syndrome; Alpha Mannosidosis; Fucosidosis; Aspartylglucosaminuria; Adrenoleukodystrophy (ALD); Globoid Cell Leukodystrophy (GLD); Krabbe Disease; Metachromatic Leukodystrophy (MLD); Sphingolipidoses; Peroxisomal Disorders

 

Last Updated: 16 Oct 2013

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