Fucosidosis is a rare lysosomal storage disorder in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the alpha-L-fucosidase enzyme. (wikipedia.org)
Mutations in the FUCA1 gene cause fucosidosis. (wikipedia.org)
Fucosidosis is caused by a mutation in the FUCA1 gene on chromosome 1p34, which is inherited in an autosomal recessive fashion 1-5 . (radiopaedia.org)
Fukosidose forårsakes av en feil i FUCA1-genet på kromosom 1p36-34. (frambu.no)
Lysosomal storage1
This is a finding unique to fucosidosis among lysosomal storage diseases 3-5,7 . (radiopaedia.org)
Autosomal5
Fucosidosis is an autosomal recessive disorder that affects many areas of the body. (wikipedia.org)
Fucosidosis is an autosomal recessive disorder, which means that both parents have to have the mutation and pass it on to the child. (wikipedia.org)
Fucosidosis is a rare inherited autosomal recessive lysosomal storage disorder , hypomyelinating disorder , and mucopolysaccharidosis -like disorder, characterized by multiorgan accumulation of fucose-containing products. (radiopaedia.org)
Ved autosomal recessiv arvegang, vil en person med en forandring (mutasjon) i ett av de to genene ikke bli syk. (frambu.no)
Fucosidosis is an autosomal recessive lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues. (beds.ac.uk)
Cord4
Owners should ensure that all currently used Stud Dogs and Brood Bitches are DNA tested, or are the product of two DNA tested Clear parents (i.e. 'hereditarily clear'), for Fucosidosis and PRA (Cord 1). (englishspringer.org)
Animal Health Trust DNA Test Application Forms (or those of any other approved organisations carrying out the DNA tests) should be signed by breeders/owners, giving permission for the results of their dogs' DNA tests to be passed to the Kennel Club for publication and inclusion on Registration documents, in accordance with the official KC/ESS Breed Schemes for Fucosidosis and PRA (Cord 1). (englishspringer.org)
Stud Dog and Brood Bitch owners should disclose to each other if either has been DNA tested as a Carrier for either Fucosidosis or PRA (Cord 1). (englishspringer.org)
New owners should be informed of the genetic status of their dog for Fucosidosis and PRA (Cord 1). (englishspringer.org)
English Springe1
The disease itself is extremely rare (less than 100 documented cases) only affecting 1:2,000,000, with most cases occurring in Italy, Cuba, and the southwest U.S. Canine fucosidosis is found in the English Springer Spaniel. (wikipedia.org)
Genetics2
Individuals with Fucosidosis should have routine follow-up with Genetics, Neurology, Ophthalmology, and other specialists as needed. (ismrd.org)
Technical information about the genetics of Fucosidosis. (ismrd.org)
Alpha-fucosidase1
Fucosidosis is caused by the lack of the enzyme alpha-fucosidase. (ismrd.org)
Enzyme3
In fucosidosis, there is an absence or near-absence of this enzyme and function, and thus these fucose-containing products accumulate within the body and deposit within various organs, such as the brain 1,2,5 . (radiopaedia.org)
Fucosidosis - Fucosidosis is an enzyme deficiency/storage disease. (rspcavic.org)
Deficiency of this enzyme can cause FUCOSIDOSIS. (jefferson.edu)
Phenotypic2
Phenotypic spectrum of fucosidosis in Tunisia. (medlineplus.gov)
However, many authors contend that fucosidosis should instead be thought of having a phenotypic spectrum, rather than two distinct types, given many patients lie in between types I and II 1 . (radiopaedia.org)
Mutation1
When both parents have the mutation, there is a 25% chance of each child having fucosidosis. (wikipedia.org)
Glycolipids1
Accumulation of glycolipids and glycoproteins also occurs in other organs such as the liver, spleen, skin, heart, pancreas, and kidneys, contributing to the additional symptoms of fucosidosis. (medlineplus.gov)
Disease6
Fucosidosis is now considered to be a single disorder and "represents a disease spectrum with a wide variety of expression. (wikipedia.org)
As in the human version, canine fucosidosis is a recessive disorder and two copies of the gene must be present, one from each parent, in order to show symptoms of the disease. (wikipedia.org)
Although fucosidosis is a multisystem disease, neuroimaging features are most commonly described. (radiopaedia.org)
Fucosidosis is a very rare lysosomal storage disease and though the incidence worldwide is not known with any certainty, it is estimated to affect less than 1:2,000,000. (ismrd.org)
Abnormal peaks with slower migration times than the tetrasaccharide position were observed for fucosidosis, α-mannosidosis, GM1 gangliosidosis, GM2 gangliosidosis variant 0, Pompe disease, and glycogen storage disease type 3. (nih.gov)
fucosidosis is a progressive disease of the nervous system that is severe and ultimately fatal. (yourdog.co.uk)
Diseases2
Fucosidosis is one of nine identified glycoprotein storage diseases. (wikipedia.org)
For some Glycoprotein diseases, including Fucosidosis, bone marrow transplant has been trialed as an experimental therapy but there are no conclusive results on the long term benefits. (ismrd.org)
Canine1
She received her veterinary degree from the University of Sydney before going on to complete an internship in large animal medicine and surgery and a PhD on the treatment of canine fucosidosis. (avbc.asn.au)
Variant1
Juvenile fucosidosis ( type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. (dictionary.net)
Symptoms2
Loss of brain cells is thought to cause the neurological symptoms of fucosidosis. (medlineplus.gov)
Currently, there is no cure to stop the progression of symptoms of Fucosidosis and treatment is aimed at addressing the individual problems as they arise. (ismrd.org)
Type3
Galluzzi P, Rufa A, Balestri P, Cerase A, Federico A. MR brain imaging of fucosidosis type I. AJNR Am J Neuroradiol. (medlineplus.gov)
Type II fucosidosis presents between 12 and 24 months of life. (ismrd.org)
Another feature of type II fucosidosis is the presence of twisted blood vessels within the membrane covering of the eyeball and inner eyelid. (ismrd.org)
Condition2
Fucosidosis is a condition that affects many areas of the body, especially the brain. (medlineplus.gov)
We are siblings both with the ultra rare condition of Fucosidosis, but aren't affected exactly the same. (ismrd.org)
Disorder2
Fucosidosis is an extremely rare disorder first described in 1962 in two Italian siblings who showed progressive intellectual disability and neurological deterioration. (wikipedia.org)
Enzymatic hydrolysis of α-L-fucose from fucosylated glycoconjugates is consequential in bacterial infections and the neurodegenerative lysosomal storage disorder fucosidosis. (bvsalud.org)
Features1
CT features of fucosidosis are rarely described, but include hypodensity of the corona radiata , globi pallidi , and thalamus 2,3 . (radiopaedia.org)
References1
This has an excellent description of Fucosidosis with good references to other information and resources. (ismrd.org)
Types2
There are two different types of fucosidosis. (ismrd.org)
Fucosidosis has been classified into 2 major types. (beds.ac.uk)