Proopiomelanocortin (POMC) Deficiency
What is proopiomelanocortin deficiency?
Proopiomelanocortin (POMC) deficiency is a rare condition that is characterized by severe obesity and pale skin. Affected individuals also have low levels of the adrenocorticotropic hormone (ACTH).
What are the symptoms of proopiomelanocortin deficiency?
Symptoms begin at birth, with affected infants facing constant hunger, which in turn leads to excessive feeding. By age one, infants are typically obese.
Decreased levels of ACTH results in a condition called adrenal insufficiency. This brings symptoms like low blood sugar, seizures, and cholestasis.
Pale skin and red hair are also very common in affected individuals, making people prone to sunburns. Not everybody with POMC deficiency has these characteristics, though.
It is important to seek treatment for this condition, especially if one has adrenal insufficiency. Without proper intervention, it can cause complications and even be fatal.
What causes proopiomelanocortin deficiency?
A mutated POMC gene causes this condition, and it is inherited in an autosomal recessive pattern. This gene is responsible for the production of the proopiomelanocortin protein, which then creates peptides that have various jobs throughout the body. When these peptides are unable to function properly, it results in the characteristic symptoms of POMC deficiency.
How is proopiomelanocortin deficiency diagnosed?
Doctors will look for the characteristic symptoms and perform a clinical evaluation. They then confirm a diagnosis through genetic testing of the blood.
What are the treatments for proopiomelanocortin deficiency?
There are no treatments specific to POMC deficiency. Doctors will work to manage symptoms and prevent complications.