Palm Trees & Dragonfly Dreams

  Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans Heiko Krude1, Heike Biebermann1, Werner Luck1, Rüdiger Horn2, Georg Brabant2 & Annette Grüters1 1 Department of Pediatrics, Charité, Campus Virchow, Humboldt-University Berlin, Germany. 2 Department of Clinical Endocrinology, Medizinische Hochschule Hannover, Germany. Correspondence should be addressed to Annette Grüters grueters@ukrv.de Sequential cleavage of the precursor protein pre−pro−opiomelanocortin (POMC) generates the melanocortin peptides adrenocorticotrophin (ACTH), melanocyte−stimulating hormones (MSH) , , and as well as the opioid−receptor ligand −endorphin1. While a few cases of isolated ACTH deficiency have been reported (OMIM 201400), an inherited POMC defect has not been described so far2. Recent studies in animal models elucidated a central role of −MSH in the regulation of food intake by activation of the brain m...

  Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10. Krude H, Biebermann H, Schnabel D, Tansek MZ, Theunissen P, Mullis PE, Grüters A. Institute of Pediatric Endocrinology, University Children's Hospital, Charite, Humboldt-University Berlin, D-13353 Berlin, Germany. heiko.krude@charite.de Abstract The symptoms of severe early-onset obesity, adrenal insufficiency, and red hair define the proopiomelanocortin (POMC) deficiency syndrome as described so far in two children with complete loss-of-function mutations of the human POMC gene. In POMC deficiency, obesity reflects the lack of POMC-derived peptides as ligands at the melanocortin (MC) MC4 and MC3 receptors, which are expressed in the hypothalamic leptin-melanocortin pathway of body weight regulation. Hypocortisolism and alteration of pigmentation are caused by the lack of POMC-derived peptides at the adrenal MC2 receptor and the skin MC1 recep...

I sent an email to the Drs. in Montreal Canada that did a study on Adrenal Insufficiency and they found 2 patients with POMC, ~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~ Hello, Let me thank you in advance for you time and assistance. This is something that is exceedingly close to my heart. Allow me to introduce myself: My name is Karen Snizek I live in Daytona Beach, Florida USA with my 4 year old son Nathaniel. He has POMC a heterozygous mutation  R236G. We got his Dx in May 2010 while under the care of Val Sheffield, University of Iowa Children's Hospital. We are currently under the care of Jennifer Miller at Shands University of Florida, Gainsville. As far as I have been able to find there are so very few of us dealing with POMC and I cannot find any others in the USA. I have sent and received e-mails from Dr.Heiko Krude in Gremany and Dr Farooqui in England to no avail. I am desperate to find others to learn from each other and be comforted. PLEASE HELP ME. PLEASE...

  My son Nathaniel has POMC he is the ONLY known person in the USA with it.... (there are less than 50 cases known in the world) Pro-opiomelanocortin Deficiency Disorder is Rare, it is considered a 'Rare/Orphan Disease' POMC affects the second chromosome = 2p 23.3 Molecular Location on chromosome 2: base pairs 25,383,721 to 25,391,558 to be exact  Not every person that has POMC will or does have all the same issues. BUT This is what Nathaniel deals with because of POMC = extended linear growth and congenital hyperphagia (insatiable hunger)~a life threatening issue and congenital secondary adrenal insufficiency ~considered rare~another life threatening issue and congenital hypothyroidism~considered rare~ and yet another life threatening issue and congenital hyopituitaryisum~considered the 'brain' of all endocrine glands and congenital hypothalamus disorder~he is unable to control his body temperature~an yes, another life threatening issue and Early...

Raising Awareness ~~~~~So I am taking this difficult time and I am looking for the positive.~~~~~ 1) Unique the really large  rare genetic support group declined to help. (to me it sounded like we were not rare enough for them) but... they then referred me  ---> to POMC Deficiency Disorder= Proopiomelanocortin/POMC Island...HA.HA.HA.HA.HA.  :'} 2) The University of Montreal has done the same thing. they 'cannot' help. :"( this one really cuts me to the quick! it is not unlike setting a cup of water in front of yet just out of reach of someone very thirsty) 3) MedHelp has sent me some referrals and yup....they referred me ---> to POMC Deficiency Disorder= Proopiomelanocortin/POMC Island!!!! HA.HA.HA.HA. :"} 4) The Doctor in Germany has told me that he has 2 male patients (pre-twenty) and that they are in satisfactory condition. :) but, is that it? no further? dead end?? 5) the Doctor in England requested more information and refer...

  (Original post) February 13, 2013 at 11:16pm What is POMC Island? where/how did it start? Let me tell you a little story: I made " POMC Island" sometime in 2012 But we were 'living' on it for quite a while before it had a name.... Nathaniel was diagnosed May of 2010.. The Dr gave me case studies and told me to take notes as there was NO support group, and very little was known about this.... as you can imagine it was very hard to comprehend. A few weeks later both my younger sister and then my Dad died suddenly, a week apart. Needless to say I was having a very low, very dark and painful time and of course I was still trying to come to grips with having a child with a rare disorder and not being able to even  find anyone else with Pro-opiomelanocortin Deficiency even though the studies I had read, the studies I had right there in my hands told me that there are other families out there ... I have not been able to contact them... And ...

Not everyone with POMC has all these issues, This just shows how very special Nate really is: I've added many links if you want to do extensive research. I have read each and every one and most I've printed out the articles so I can re-read them. Original post : May 2, 2014 at 2:04pm   http://ghr.nlm.nih.gov/condition/proopiomelanocortin-deficiency How common is proopiomelanocortin deficiency? POMC deficiency is a rare condition; approximately 50 cases have been reported in the medical literature. What is proopiomelanocortin deficiency? Proopiomelanocortin (POMC) deficiency causes severe obesity that begins at an early age. In addition to obesity, people with this condition have low levels of a hormone known as adrenocorticotropic hormone (ACTH) and tend to have red hair and pale skin. Affected infants are usually a normal weight at birth, but they are constantly hungry, which leads to excessive feeding (hyperphagia). The babies continuously ...