Phytantic acid storage disease is a rare genetic disorder. It is also known as Adult Refsum Disease (ARD) and results in numbness or weakening in the hands and feet (peripheral neuropathy).Risk factors-This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.The parents of an individual with an autosomal recessive condition e Read More
Congenital zinc deficiency is an inborn error mechanism in thezinc availability in the body.
Although dietary variables are frequently the cause of zinc deficiency, various genetic abnormalities of zinc insufficiency have been reported. The most frequently reported inherited human ailment is acrodermatitis enteropathica.
In several of the few cases that have been reported, this disorder is associated with mutations in the hZIP4 gene, a member o Read More