Fucosidosis E77.1

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 18.05.2024

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Synonym(s)

Fucosidosis; Pseudo-Hurler Syndrome

History
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Durand, 1966

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

Etiopathogenesis
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Mutation of the FUCA2 gene, which codes for alpha-L-fucosidase. The gene is mapped on chromosome 1p34.

Manifestation
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1-3 years of age.

Clinical features
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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 ).

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

Literature
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  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

Outgoing links (2)

Fabry's disease; FUCA2 gene;

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

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Last updated on: 18.05.2024