This disease is an inherited disease which means that the disease get transfer from parent to child. It is an autosomal recessive disease which means that the defect in genes is mainly in the autosomes or the chromosomes of the body cells and it is recessive which means that the disease can only transfer in the case if both the allele on the chromosome express them self in the body. A single defective gene on one allele cannot develop symptoms of disease. It is a metabolic disorder, as the defective gene cannot produce normal products that are responsible for the normal functioning of the metabolism.
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This is due to the defect in the SLC39A4 gene on chromosome 8 Q24.3. Actually the 8 represents the no of chromosome, Q represents the long arm of the chromosome (p represents the short arm), 24 represents the band. These bands can be seen in high-resolution power while the 3 reprents the sub bands that is further seen by more resolution power. This gene is responsible for the coding of transmembrane protein, which is required for the uptake of Zinc.Hence in this disorder there is deficiency of Zn.
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The symptoms start at very early stages of life just after a baby starts weaning and stops feeding on milk as milk contains that protein which is responsible for the Zn defficiency. Symptoms include:
Deramtitis or inflammations of skin, usually in the limbs and around the natural orifices like mouth.
Leisons are ezcematous and they develop into pustules
Scaly dry skin
Alopecia (loss of hair)
Inflammation around the nail fold, called paronychia.
Skin leison can be infected by fungus called candida albicans or by
Bacteria named staphylococccus aureus.
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There is no treatment but since the disease is due to the deficiency of the Zinc so, diet containing more amount of Zn can be used to treat it. Daily requirement of the Zn is 1-2 mg/kg/day. The best sources of zinc are oysters (richest source) red meats, poultry, cheese (ricotta, Swiss, gouda), shrimp, crab, and other shellfish.
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