Congenital Zinc Deficiency from Mutations of the SLC39A4 Gene as the Genetic Background of Acrodermatitis Enteropathica
January 2010
in “
Journal of Korean medical science/Journal of Korean Medical Science
”
TLDR A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
The study reported the first genetically confirmed case of acrodermatitis enteropathica (AE) in Korea, involving an 8-month-old boy with skin lesions, diarrhea, and alopecia, which improved with oral zinc supplementation. Genetic analysis showed he was compound heterozygous for a known missense mutation (Arg95Cys) and a novel splicing mutation (c.1287+2T>C) in the SLC39A4 gene. His parents were heterozygous carriers of these mutations. The findings highlighted the importance of genetic testing for SLC39A4 mutations in patients with recurrent AE symptoms after stopping zinc supplementation.
