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Fucosidosis

MedGen UID:
5288
Concept ID:
C0016788
Disease or Syndrome
Synonyms: ALPHA-L-FUCOSIDASE DEFICIENCY; Lysosomal storage disease caused by defective alpha-L-fucosidase with accumulation of fucose in the tissues
SNOMED CT: Fucosidosis (64716005); Fucosidase deficiency (64716005); alpha-L-fucosidase deficiency (64716005); Alpha-L-fucosidase deficiency (64716005)
Modes of inheritance:
 
FUCA1 (1p36.11)
 
Monarch Initiative: MONDO:0009254
OMIM®: 230000
Orphanet: ORPHA349

Definition

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 (Kousseff et al., 1976). [from OMIM]

Additional description

From MedlinePlus Genetics
Fucosidosis is a condition that affects many areas of the body, especially the brain. The symptoms of fucosidosis can vary from person to person. Affected individuals have intellectual disabilities that worsen with age. Over time, people with this condition tend to lose skills they had previously learned, such as sitting, standing, walking, or talking. Additional signs and symptoms of fucosidosis can include slow growth, abnormal bone development (dysostosis multiplex), and rigid or stiff muscles (spasticity). People with fucosidosis may also have clusters of enlarged blood vessels that form small, dark red spots on the skin (angiokeratomas) and distinctive facial features that are often described as "coarse." Additional features of fucosidosis can include frequent respiratory infections, an enlarged liver and spleen (hepatosplenomegaly), and seizures.

In the past, fucosidosis has been divided into two types based on the symptoms and age of onset. Type 1 was used to describe the more severe form of the disorder, with symptoms typically appearing in infancy. Type 2 was used to describe cases with milder symptoms and a slower progression. Currently, many researchers consider the condition to be a spectrum with a wide range in severity.   https://medlineplus.gov/genetics/condition/fucosidosis

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFucosidosis

Professional guidelines

PubMed

Krivit W, Peters C, Shapiro EG
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Recent clinical studies

Etiology

Burlina AP, Manara R, Gueraldi D
Handb Clin Neurol 2024;204:147-172. doi: 10.1016/B978-0-323-99209-1.00008-9. PMID: 39322377
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Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:697-706. PMID: 27491218
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Diagnosis

Stepien KM, Ciara E, Jezela-Stanek A
Genes (Basel) 2020 Nov 22;11(11) doi: 10.3390/genes11111383. PMID: 33266441Free PMC Article
Abdallah C, Hannallah R, McGill W
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Lee FA, Donnell GN, Gwinn JL
Pediatr Radiol 1977;5(4):204-8. doi: 10.1007/BF00972177. PMID: 122443
Matsuda I, Arashima S, Oka Y, Mitsuyama T, Ariga S
Clin Chim Acta 1975 Aug 18;63(1):55-60. doi: 10.1016/0009-8981(75)90378-2. PMID: 1181074

Therapy

Kumar AB, Hong X, Yi F, Wood T, Gelb MH
Mol Genet Metab 2019 Jul;127(3):207-211. Epub 2019 Jun 10 doi: 10.1016/j.ymgme.2019.05.016. PMID: 31235216Free PMC Article
Fletcher JL, Taylor RM
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:697-706. PMID: 27491218
Zampetti A, Fania L, Antuzzi D, Giurdanella F, Gnarra M, Bertola F, Lualdi S, Filocamo M, Morrone A, Feliciani C
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Cell Transplant 2013;22(2):189-204. Epub 2012 Sep 21 doi: 10.3727/096368912X656117. PMID: 23006656
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Hum Hered 1982;32(2):100-5. doi: 10.1159/000153267. PMID: 7095811

Prognosis

Fletcher JL, Taylor RM
Pediatr Endocrinol Rev 2016 Jun;13 Suppl 1:697-706. PMID: 27491218
Galluzzi P, Rufa A, Balestri P, Cerase A, Federico A
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Prindiville DE, Stern D
J Oral Surg 1976 Jul;34(7):603-8. PMID: 819638

Clinical prediction guides

Wang L, Yang M, Hong S, Tang T, Zhuang J, Huang H
J Int Med Res 2020 Apr;48(4):300060520911269. doi: 10.1177/0300060520911269. PMID: 32238081Free PMC Article
Tümer L, Kasapkara ÇS, Biberoğlu G, Ezgü F, Hasanoğlu A
J Pediatr Endocrinol Metab 2013;26(11-12):1149-52. doi: 10.1515/jpem-2013-0066. PMID: 23813353
Krivit W, Sung JH, Shapiro EG, Lockman LA
Cell Transplant 1995 Jul-Aug;4(4):385-92. doi: 10.1177/096368979500400409. PMID: 7582569
Porfiri B, Ricci R, Seminara D, Segni G
Arch Dermatol Res 1981;270(1):57-66. doi: 10.1007/BF00417150. PMID: 7259293
Thorpe R, Robinson D
Clin Chim Acta 1978 May 16;86(1):21-30. doi: 10.1016/0009-8981(78)90453-9. PMID: 26486

Recent systematic reviews

Autti T, Joensuu R, Aberg L
Neuroradiology 2007 Jul;49(7):571-8. Epub 2007 Mar 3 doi: 10.1007/s00234-007-0220-6. PMID: 17334752

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