74:
133:. The result is incomplete breakdown of glycolipids and glycoproteins. These partially broken down compounds accumulate in various parts of the body and begin to cause malfunction in cells, and can eventually cause cell death. Brain cells are especially sensitive to this buildup. Other results are progressive neurological deterioration, skin abnormalities, growth retardation, skeletal disease, and coarsening of facial features. Fucosidosis is the consequence of faulty degradation of both
48:
210:
Severe cases can develop life-threatening complications early in childhood. In the more severe forms (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
233:
Fucosidosis is an extremely rare disorder first described in 1962 in two
Italian siblings who showed progressive intellectual disability and neurological deterioration. The disease itself is extremely rare (less than 100 documented cases) only affecting 1:2,000,000, with most cases occurring in
160:
The condition was traditionally separated by type, with type 1 beginning sooner, progressing more quickly, and being more severe, and type 2 being milder and progressing more slowly; a third, even milder form has also been recognized. Fucosidosis is now considered to be a single disorder and
113:
that affects many areas of the body. Mutations in the FUCA1 gene cause fucosidosis. The FUCA1 gene provides instructions for making an enzyme called alpha-L-fucosidase. The enzyme plays a role in the breakdown of complex sugars in the body. The deficiency of the enzyme
892:
877:
862:
484:
Jajosky, Ryan Philip; Wu, Shang-Chuen; Zheng, Leon; Jajosky, Audrey N.; Jajosky, Philip G.; Josephson, Cassandra D.; Hollenhorst, Marie A.; Sackstein, Robert; Cummings, Richard D.; Arthur, Connie M.; Stowell, Sean R. (January 2023).
156:
Fucosidosis is an autosomal recessive disorder, which means that both parents have to have the mutation and pass it on to the child. When both parents have the mutation, there is a 25% chance of each child having fucosidosis.
145:(a member of the ABO blood group antigens), a glycolipid, is seen primarily in the liver of fucosidosis patients; some researchers have speculated that blood type may play a role in the course of the disease.
549:
Johnson, William G. (2015). "Disorders of
Glycoprotein Degradation: Sialidosis, Fucosidosis, α-Mannosidosis, β-Mannosidosis, and Aspartylglycosaminuria". In Rosenberg, Roger N.; Pascual, Juan M. (eds.).
161:"represents a disease spectrum with a wide variety of expression." More severe forms (type 1) appear in the first 3 to 18 months of life, while milder forms typically appear between 12 and 24 months.
1201:
817:
153:
A special urine test is available to check for any partially broken-down sugars. If they are present, a skin or blood sample will be taken to test for below-normal amounts of alpha-fucosidase.
278:
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.
1014:
333:
1196:
101:. The gene encoding the alpha-fucosidase, FUCA 1, was found to be located to the short arm of chromosome 1p36 - p34, by Carrit and co-workers, in 1982.
1031:
964:
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793:
1191:
559:
1055:
1007:
992:
222:
There is no treatment or way to reverse the disease; treatment instead focuses on the individual's symptoms, such as seizure medication.
907:
712:
1065:
1000:
487:"ABO blood group antigens and differential glycan expression: Perspective on the evolution of common human enzyme deficiencies"
97:. The result is a buildup of complex sugars in parts of the body, which leads to death. Fucosidosis is one of nine identified
765:
631:
Kousseff, B. G.; Beratis, N. G.; Strauss, L.; Brill, P. W.; Rosenfield, R. E.; Kaplan, B.; Hirschhorn, K. (February 1976).
685:
98:
110:
1087:
1050:
1027:
87:
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126:), leads to lysosomal accumulation of a variety of glycoproteins, glycolipids, and oligosaccharides that contain
918:
246:
1186:
1103:
176:
1154:
980:
308:
225:
Research into bone marrow transplants, in an attempt to improve enzyme activity, is ongoing as of 2023.
169:
Symptoms are highly variable, with mild cases being able to live to within the third or fourth decade.
706:
Willems, Patrick J; Seo, Hee-Chan; Coucke, Paul; Tonlorenzi, Rossana; O'Brien, John S (January 1999).
637:
500:
362:"Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series"
958:
896:
73:
1120:
747:
662:
130:
115:
91:
90:
in which the FUCA1 gene experiences mutations that severely reduce or stop the activity of the
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17:
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119:
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552:
Rosenberg's molecular and genetic basis of neurological and psychiatric disease
512:
360:
Stepien, Karolina M.; Ciara, ElĹĽbieta; Jezela-Stanek, Aleksandra (2020-11-22).
118:, which is used to metabolize complex compounds in the body (fucose-containing
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886:
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Typically affecting dogs between 18 months and four years, symptoms include:
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More severe forms are linked with mental retardation.
454:
452:
450:
275:
From the onset, disease progress is quick and fatal.
844:
554:(5th ed.). Amsterdam: Elsevier Academic Press.
1202:
Skin conditions resulting from errors in metabolism
1146:
1096:
1064:
1043:
944:
848:
61:
37:
32:
203:Progressive deterioration of brain and spinal cord
1008:
798:American Kennel Club Canine Health Foundation
794:"Fucosidosis in the English Springer Spaniel"
8:
332:: CS1 maint: numeric names: authors list (
1015:
1001:
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72:
29:
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520:
397:
379:
584:National Organization for Rare Disorders
299:
708:"Spectrum of mutations in fucosidosis"
325:
788:
786:
200:Abnormal bone formation of many bones
7:
1088:Pseudo-Hurler polydystrophy (ML III)
1056:Congenital disorder of glycosylation
602:
600:
573:
571:
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423:
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419:
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355:
353:
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349:
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307:RESERVED, INSERM US14-- ALL RIGHTS.
234:Italy, Cuba, and the southwest U.S.
429:"Fucosidosis: MedlinePlus Genetics"
206:Increased or decreased perspiration
713:European Journal of Human Genetics
25:
1197:Glycoprotein metabolism disorders
211:outcome before the sixth year."
46:
1066:Post-translational modification
1:
1192:Autosomal recessive disorders
464:The Medical Biochemistry Page
99:glycoprotein storage diseases
41:Alpha-L-fucosidase deficiency
818:"Genetic Tests: Fucosidosis"
141:. Major accumulation of the
111:autosomal recessive disorder
1218:
1051:Dolichol kinase deficiency
1024:Lysosomal storage diseases
686:Boston Children's Hospital
513:10.1016/j.isci.2022.105798
88:lysosomal storage disorder
54:
45:
256:Loss of learned behavior
247:English Springer Spaniel
1032:carbohydrate metabolism
727:10.1038/sj.ejhg.5200272
309:"Orphanet: Fucosidosis"
194:Intellectual disability
1104:Aspartylglucosaminuria
1083:I-cell disease (ML II)
177:Coarse facial features
122:and fucose-containing
1155:solute carrier family
766:"Animal Genetics Inc"
651:10.1542/peds.57.2.205
381:10.3390/genes11111383
259:Change in temperament
633:"Fucosidosis type 2"
505:2023iSci...26j5798J
1121:Alpha-mannosidosis
945:External resources
243:Canine fucosidosis
172:Symptoms include:
116:alpha-L-fucosidase
109:Fucosidosis is an
92:alpha-L-fucosidase
18:Fucosidosis type 1
1174:
1173:
1166:Galactosialidosis
1138:Schindler disease
1126:Beta-mannosidosis
1071:lysosomal enzymes
990:
989:
561:978-0-12-410529-4
81:
80:
27:Medical condition
16:(Redirected from
1209:
1036:Glycoproteinoses
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768:. Archived from
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245:is found in the
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359:
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341:
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317:
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296:
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265:Loss of balance
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167:
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139:polysaccharides
107:
71:
28:
23:
22:
15:
12:
11:
5:
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1005:
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987:
984:
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972:
961:
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942:
941:
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937:
926:
915:
904:
889:
874:
858:
853:
852:
850:
849:Classification
842:
841:External links
839:
836:
835:
809:
782:
757:
698:
672:
645:(2): 205–213.
623:
596:
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560:
536:
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182:Enlarged liver
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150:
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52:
51:
43:
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26:
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10:
9:
6:
4:
3:
2:
1214:
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1200:
1198:
1195:
1193:
1190:
1188:
1187:Rare diseases
1185:
1184:
1182:
1167:
1164:
1161:
1160:Salla disease
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1156:
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1110:
1107:
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1080:
1079:Mucolipidosis
1077:
1076:
1074:
1072:
1067:
1063:
1057:
1054:
1052:
1049:
1048:
1046:
1042:
1037:
1033:
1029:
1028:Inborn errors
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799:
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772:on 2011-10-17
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728:
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681:"Fucosidosis"
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652:
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634:
627:
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613:
609:
608:"Fucosidosis"
603:
601:
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579:"Fucosidosis"
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572:
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541:
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499:(1): 105798.
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465:
461:
460:"Fucosidosis"
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135:sphingolipids
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124:glycoproteins
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68:Endocrinology
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19:
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1115:mannosidosis
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827:. Retrieved
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801:. Retrieved
797:
774:. Retrieved
770:the original
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720:(1): 60–67.
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690:. Retrieved
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615:. Retrieved
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588:. Retrieved
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374:(11): 1383.
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83:
82:
1109:Fucosidosis
970:fucosidosis
959:fucosidosis
954:MedlinePlus
434:MedlinePlus
271:Weight loss
238:Other forms
120:glycolipids
84:Fucosidosis
38:Other names
33:Fucosidosis
1181:Categories
1133:Sialidosis
1097:Catabolism
930:DiseasesDB
829:2023-09-26
803:2023-09-26
776:2013-03-20
692:2023-09-26
638:Pediatrics
617:2023-09-26
590:2023-09-26
470:2023-09-26
440:2023-09-26
294:References
288:Sialidosis
86:is a rare
1044:Anabolism
736:1018-4813
667:245097573
390:2073-4425
262:Blindness
218:Treatment
188:, and/or
149:Diagnosis
143:H-antigen
63:Specialty
976:Orphanet
823:Penn Vet
752:22766752
744:10094192
531:36691627
492:iScience
408:33266441
328:cite web
318:11 April
282:See also
268:Deafness
197:Seizures
165:Symptoms
131:moieties
924:D005645
872:5C56.21
522:9860303
501:Bibcode
399:7700486
229:History
913:230000
750:
742:
734:
665:
659:814528
657:
558:
529:
519:
406:
396:
388:
186:spleen
128:fucose
95:enzyme
70:
56:Fucose
1147:Other
935:29471
902:271.8
887:E77.1
748:S2CID
663:S2CID
612:ISMRD
367:Genes
190:heart
105:Cause
965:NORD
919:MeSH
908:OMIM
897:9-CM
740:PMID
732:ISSN
655:PMID
556:ISBN
527:PMID
404:PMID
386:ISSN
334:link
320:2019
137:and
1069:of
1030:of
981:349
893:ICD
878:ICD
863:ICD
722:doi
647:doi
517:PMC
509:doi
394:PMC
376:doi
1183::
1081::
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Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
