For Patients and Caregivers:

What are POMC- and LepR-Deficiency Obesity?

Obesity is common in the U.S., and many factors are likely responsible. Sometimes, severe obesity in infants and children may be caused by a genetic disorder. A genetic disorder is a disease that is caused when certain genes in your body don’t work the way they should. This is sometimes called a genetic mutation.

Some genetic disorders affect the chemicals, or hormones, in your body that control appetite and weight. The hormones that normally make people feel full and keep them at a healthy weight may not be working properly in your body. There are two rare but important genetic disorders that cause obesity in very young children called POMC (pro-opiomelanocortin) deficiency and LepR (leptin receptor) deficiency.

There are currently no treatments for POMC and LepR deficiency. More research is needed to better understand them and help develop potential treatments.

About POMC-Deficiency Obesity & LepR-Deficiency Obesity

Recent research has identified several rare disorders of obesity, including POMC-deficiency obesity and LepR-deficiency obesity, that are the result of genetic defects. These two disorders generally are associated with very rapid weight gain in childhood that continues into adulthood, along with extreme and unrelenting appetite. Other characteristics sometimes associated with these genetic disorders are red hair and light skin that burns but never tans.

POMC deficiency is characterized by voracious infant feeding, rapid weight gain, and severe obesity—often in early infancy—with patients demonstrating remarkable weight increases many standard deviations above normal-weight growth curves.

LepR deficiency also causes hyperphagia (an unusual increase in appetite) and severe, early-onset obesity. LepR deficiency can also be associated with mild alterations in immune function, delayed puberty, and short stature.

Learn about a new genotyping study to identify people who have POMC or LepR deficiency obesity >

The GO-ID Genotyping Study is supported by a grant from Rhythm Pharmaceuticals, Inc. The content on this site is intended for use by patients, caregivers, and healthcare professionals for informational purposes only and is not intended to be taken as medical advice.
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