UROD-related inherited porphyria

UROD-related inherited porphyria is a rare condition that affects the body's handling of porphyrins, which are chemicals important for energy production. This condition arises from changes in the UROD gene and can affect people in different ways depending on the genetic changes and environmental factors involved. In some cases, people with one affected copy of the gene (monoallelic variants) may experience episodes of photosensitivity as adults when triggered by environmental factors. In other cases, where both copies of the gene are affected (biallelic variants), reduced enzyme activity can lead to symptoms starting in childhood, which can include significant sensitivity to light and sometimes liver damage.

People with UROD-related inherited porphyria may experience photosensitivity. In cases with monoallelic variants, light exposure can trigger episodes of skin sensitivity during adulthood. For those with biallelic variants, symptoms often start in childhood and can include severe reactions to sunlight and, in some cases, liver problems.

This condition is caused by changes in the UROD gene. There are two patterns: monoallelic variants, where one copy of the gene is affected, and biallelic variants, where both copies are affected. Environmental factors also play a significant role in triggering symptoms in people with monoallelic variants, while biallelic variants lead to a more severe reduction in enzyme activity.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research is currently limited for this condition.