Norum disease

Norum disease is a rare condition caused by a deficiency of the LCAT enzyme. This enzyme is important for processing cholesterol in the body, and without it, people with this condition can experience a range of complications. The deficiency is complete, meaning that there is very little or no LCAT enzyme activity present. This condition is characterized by a set of clinical features, including problems with the eyes such as corneal opacities; blood-related issues like hemolytic anemia; and kidney problems that can lead to renal failure. Additionally, laboratory tests usually show severely decreased HDL cholesterol. The condition is often linked to a genetic issue with the LCAT gene.

People with Norum disease may experience corneal opacities, which affect the clarity of the eyes, hemolytic anemia that affects red blood cells, and renal failure impacting the kidneys. These symptoms are due to the severe deficiency of the LCAT enzyme and the resulting problems with cholesterol processing.

Norum disease is caused by a deficiency in the LCAT enzyme. This deficiency is linked to changes in the LCAT gene, which plays a crucial role in processing cholesterol. The complete lack of this enzyme leads to the biochemical and clinical features seen in the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.