FucosidosisE77.1

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Fucosidosis; Pseudo-Hurler Syndrome

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HistoryThis section has been translated automatically.

Durand, 1966

DefinitionThis section has been translated automatically.

Very rare, autosomal recessive inherited storage disease due to the absence of the lysosomal enzyme alpha-L-fukosidase.

EtiopathogenesisThis section has been translated automatically.

mutation of the FUCA gene encoding alpha-L-fucosidase. The gene is mapped on chromosome 1p34.

ManifestationThis section has been translated automatically.

1-3 years of age.

Clinical featuresThis section has been translated automatically.

Facial dysmorphia, growth retardation, organomegaly, dysostosis multiplex, neurological disorders and corneal opacities and vascular changes in the retina. Saline concentration in sweat is increased. According to clinical aspects 3 forms are distinguished:
  • Type I: Preferably neurological symptoms.
  • Type II: Preferably skeletal involvement.
  • Type III: Shows angiokeratomas (indistinguishable from those of Fabry's disease ).

DiagnosisThis section has been translated automatically.

Detection of enzyme deficiency in cell cultures of fibroblasts and lymphocytes.

LiteratureThis section has been translated automatically.

  1. Durand P et al (1967) A new disease caused by accumulation of glycolipids. (Ceramide tetrahexosides). Minerva Pediatr 19: 2187-2196
  2. Durand P (1966) Intolerance to carbohydrates due to faulty digestion, absorption, intestinal diffusion and to intermediate metabolism disorders. Minerva Pediatr 18: 532-539
  3. Durand P et al (1965) New clinical acquisitions on primary and secondary intolerance to carbohydrates. Clin Ter 35: 401-418
  4. Fleming C et al (1997) Cutaneous manifestations of fucosidosis. Br J Dermatol 136: 594-597
  5. Kanzaki T (1995) Lysosomal storage diseases with angiokeratoma corporis diffusum. Nippon Rinsho 53: 3062-3067
  6. Willems PJ et al (1999) Spectrum of mutations in fucosidosis. Eur J Hum Genet 7: 60-67
  7. Wenger DA et al (2003) Insights into the diagnosis and treatment of lysosomal storage diseases. Arch Neurol 60: 322-328

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer