Acrodermatitis enteropathica has an autosomal recessive pattern of inheritance.
A mutation of the SLC39A4 gene on chromosome 8q24.3 is responsible for the disorder. The SLC39A4 gene encodes a transmembrane protein that serves as a zinc uptake protein. The features of the disease usually start manifesting as an infant is weaned from breast milk. This has led some scientists to suspect that human milk contains a beneficial substance that helps uptake of zinc and prevents the disease from being manifested while an infant is on breast milk.
Without treatment, the disease is fatal and affected individuals may die within a few years. There is no cure for the condition. Treatment includes lifelong dietary zinc supplementation in the range of greater than 1–2 mg/kg of bodyweight per day.
^Wang, K; Pugh, Ew; Griffen, S; Doheny, Kf; Mostafa, Wz; Al-Aboosi, Mm; El-Shanti, H; Gitschier, J (April 2001). "Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3". American Journal of Human Genetics68 (4): 1055–60. doi:10.1086/319514. PMC1275625. PMID11254458.
^Stedman, Thomas Lathrop. 2005. Stedman's Medical Eponyms. Baltimore: Lippincott Williams & Wilkins, p. 170.
^Küry, S; Dréno, B; Bézieau, S; Giraudet, S; Kharfi, M; Kamoun, R; Moisan, Jp (July 2002). "Identification of SLC39A4, a gene involved in acrodermatitis enteropathica". Nature Genetics31 (3): 239–40. doi:10.1038/ng913. PMID12068297.
^Michalczyk, A; Varigos, G; Catto-Smith, A; Blomeley, Rc; Ackland, Ml (August 2003). "Analysis of zinc transporter, hZnT4 ( Slc30A4), gene expression in a mammary gland disorder leading to reduced zinc secretion into milk". Human Genetics113 (3): 202–10. doi:10.1007/s00439-003-0952-2. PMID12743795.