Article
A new mutation in exon 3 of the SCL39A4 gene in a Tunisian family with severe acrodermatitis enteropathica.
Nutrition (Burbank, Los Angeles County, Calif.) - 1 Oct 2006
Meftah Sheila P, Kuivaniemi Helena, Tromp Gerard, Kerkeni Abdelhamid, Sfar Mohammed Tahar, Ayadi Abdelkerim, Prasad Ananda S
Abstract excerpt
Acrodermatitis enteropathica is a rare autosomal recessive disease that manifests as an inability of the affected individual to absorb intestinal zinc, and therefore patients have nutritional zinc deficiency. Without zinc therapy, this condition is fatal. Mutations in the SLC39A4 gene are responsible for acrodermatitis enteropathica. This gene encodes one member of a human zinc/iron-regulated transporter-like...
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