Acrodermatitis enteropathica and an overview of zinc metabolism.
Acrodermatitis enteropathica is a rare autosomal recessive disorder of zinc deficiency. The genetic defect has been mapped to 8q24 and the defective gene identified as SLC39A4, which encodes the zinc transporter Zip4. The diagnosis is made by way of clinical presentation together with histopathology and laboratory tests. Here we provide an overview of zinc metabolism and a description of inherited and acquired zinc deficiency.
Maverakis
Emanual
E
Department of Dermatology, University of California-Davis, Sacramento, CA 95816, USA.
Fung
Maxwell A
MA
Lynch
Peter J
PJ
Draznin
Michelle
M
Michael
Daniel J
DJ
Ruben
Beth
B
Fazel
Nasim
N
D000169:Acrodermatitis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D000328:Adult; D000818:Animals; D027682:Cation Transport Proteins / Q000737:chemistry / Q000172:deficiency* / Q000235:genetics / Q000502:physiology; D004032:Diet; D004195:Disease Models, Animal; D005260:Female; D005786:Gene Expression Regulation; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007408:Intestinal Absorption; D007413:Intestinal Mucosa / Q000378:metabolism; D007583:Jejunum / Q000378:metabolism; D008286:Malabsorption Syndromes / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains; D008892:Milk / Q000737:chemistry; D009751:Nutritional Requirements; D012867:Skin / Q000473:pathology; D015032:Zinc / Q000172:deficiency* / Q000378:metabolism / Q000493:pharmacokinetics / Q000502:physiology / Q000627:therapeutic use
D027682:Cation Transport Proteins; C486791:SLC39A4 protein, human; D015032:Zinc