Hypercarotenemia with vitamin A deficiency autosomal dominant (HCVAD) is an inherited metabolic disorder. Metabolism is the body’s process of breaking down food and turning it into energy. In this condition, the body cannot properly convert carotene (a compound commonly found in fruits and vegetables) into vitamin A. This causes low levels of vitamin A. Vitamin A is important for vision, healthy skin, immune system strength, and organ function. Thus, individuals with this condition may experience skin discoloration, high levels of carotene (since it can’t be properly converted), and low levels of vitamin A in the blood. Currently, there have only been 5 individuals reported to have HCVAD.
HCVAD is a genetic condition caused by changes in the BCMO1 gene. Our genes are what control the growth, development and function of our bodies. If a mistake or error occurs in a gene, it can cause problems. We inherit our genes in pairs, one from each parent typically. HCVAD is inherited in an autosomal dominant manner. Autosomal dominant means an individual only needs one copy of the changed gene or mutation that causes the condition. Usually, a rare condition like this is inherited from one parent. If one parent is a carrier for the mutated gene, children have a 50% chance of having the condition.
If you or a family member has been diagnosed with hypercarotenemia with vitamin A deficiency autosomal dominant, talk to your doctor about the most current treatment options. Support groups are also a good source of information.
Description Last Updated: Feb 12, 2018