Proopiomelanocortin deficiency

Disease Overview

Proopiomelanocortin (POMC) deficiency is characterized by severe obesity that begins at an early age. Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads to excessive feeding and weight gain during the first year and throughout life. In addition, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) which leads to adrenal insufficiency. They also tend to have red hair and pale skin. POMC deficiency is caused by mutations in the POMC gene. The condition is inherited in an autosomal recessive pattern.[9481] Adrenal insufficiency requires prompt treatment with hydrocortisone to avoid life-threatening complications.[9481][9482]  

Synonyms

• Obesity, early-onset, adrenal insufficiency, and red hair
• POMC deficiency
• Obesity due to pro-opiomelanocortin deficiency