Fucosidosis

Novel mutations in the FUCA1 gene that cause fucosidosis

W. Panmontha, Amarinthnukrowh, P., Damrongphol, P., Desudchit, T., Suphapeetiporn, K., Shotelersuk, V., Panmontha, W., Amarinthnukrowh, P., Damrongphol, P., Desudchit, T., Suphapeetiporn, K., and Shotelersuk, V., Novel mutations in the FUCA1 gene that cause fucosidosis, vol. 15, p. -, 2016.

Fucosidosis is a rare lysosomal storage disorder inherited in an autosomal recessive manner. Its estimated frequency is below 1 in 200,000 live births. Its clinical phenotypes include progressive neurological and mental deterioration, coarse facial features, growth retardation, visceromegaly, angiokeratomas, and seizures. The disease is caused by mutations in the FUCA1 gene that lead to deficiency of a-L-fucosidase. Here, we describe the clinical and molecular features of a Thai boy with fucosidosis.

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