Fucosidosis

Fucosidosis is an autosomal recessive metabolic disorder in which fucosidase is not properly used in the cells to break down fucose.There are at least two types of fucosidosis. In type 1, patients have no vascular lesions, but have rapid psychomotor regression, severe and rapidly progressing neurologic signs, elevated sodium and chloride excretion in the sweat, and fatal outcome before the sixth year. In type 2, patients have angiokeratoma, milder psychomotor retardation and neurologic signs, longer survival, and normal salinity in the sweat. (From the Wikpedia article Fucosidosis.)

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Recent Publications on Fucosidosis:
Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis. Fucosidosis is a rare autosomal recessive lysosomal storage disease,...	1st August, 2008	Department of Pediatrics, Stadtisches Klinikum Karlsruhe, Karlsruhe,	Neuropediatrics. 2008 Feb;39(1):51-4. DOI Direct Link
Phenotypic spectrum of fucosidosis in Tunisia. Fucosidosis (OMIM 230000) is a rare autosomal recessive lysosomal disorder...	25th July, 2008	Paediatric Department, La Rabta Hospital, Jbal Lakhdar, Jebbari, Tunis,	J Inherit Metab Dis. 2008 Jul 27. DOI Direct Link
Fucosidosis: MRI and MRS findings. Fucosidosis is a rare, autosomal recessive lysosomal storage disease in...	20th February, 2008	Department of Radiology, Gazi University School of Medicine, Ankara 06510,	Pediatr Radiol. 2007 Oct;37(10):1050-2. Epub 2007 Aug 18. DOI Direct Link
Fucosidosis and anesthesia. Fucosidosis is a rare, autosomal recessive lysosomal storage disorder...	6th February, 2008	Department of Anesthesia, Children Medical Center, University of Tehran,	Saudi Med J. 2007 Sep;28(9):1446-8.
[Neurological presentations of lysosomal diseases in adult patients] Lysosomal diseases represent a large group of genetic storage disorders...	17th January, 2008	Federation des maladies du systeme nerveux et centre de reference national	Rev Neurol (Paris). 2007 Oct;163(10):919-29. DOI Direct Link
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Fucosidosis Patents:
US Patent No.	Title
7196164	Secreted protein HHTLF25
7368527	HADDE71 polypeptides
7368531	Human secreted proteins
7378077	High dose radionuclide complexes for bone marrow suppression
7378231	Diagnosis of lysosomal storage disorders using saposins and other markers
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