The following Conditions are related to Deafness

Select a specific condition below to view its details.

  • Hal deficiency

    HAL deficiency i.e histidine ammonia-lyase (HAL) deficiency or histidase deficiency, hyperhistidinemia or Histidinemia is a rare, autosomal recessive hereditary metabolic disorder.It is caused by a deficiency of the enzyme histidase, which is necessary for metabolizing the amino acid histidine. As a result, elevated levels of histidine are present in the blood.Along with histidine, there are excessive amou  Read More

  • Ichthyotic neutral lipid storage disease

    Ichthyotic Neutral Lipid Storage Disease (NLSDI) is a rare autosomal genetic disorder caused by excessive accumulation of lipid in body tissues. The human body stores surplus energy, in the form of triacylglycerols, primarily in adipose tissues; However, every tissue stores lipid droplets.The enzyme adipose triglyceride lipase (ATGL) releases triglycerides from the lipid droplets, for energy. However, ATGL is stimulated  Read More

  • Phytanic acid storage disease

    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