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Medical Forum / General / Nutrition / December 2007Hyperprolinemia, please help
My son was diagnosed with hyperprolinemia and he has DiGeorge syndrome. Both problems area related to chromosome area 22q11.2 / .21. He is lacking an enzyme to convert proline into something else. This is very serious as the build up of L-Proline (30 times out of the top range) has neurological effects (psychosis, schizophrenia, etc.). From http://hmg.oxfordjournals.org/cgi/reprint/ddl443v1.pdf : "...therapeutic consequences for HPI as well as DiGeorge subjects with hyperprolinemia, conceivable to lower plasma proline levels by reduction of proline intake (18)pharmacological treatment early during early childhood in these patients..." ... 18. Jaksic, T., Wagner, D.A. and Young, V.R. (1990) Plasma proline kinetics and concentrations in young men in response to dietary proline deprivation. Am J Clin Nutr, 52, 307-312. The article by Jaksic et al states that proline deprivation in the diet has very little effect on plasma levels. I've read that we need pharmacological help. Aside from gene therapy.. what would that be? Is there such thing as a proline oxidase enzyme pill or injection??? Is there another amino acid that would somehow block proline??? Our son's specialists are "looking into the matter" but they are initially confused and don't know how to lower it. This is a rare problem.. they said that only 200k people in the USA have this. He is 6 years old and suffering from a number of neurological problems. Please help. > My son was diagnosed with hyperprolinemia and he has DiGeorge > syndrome. Both problems area related to chromosome area 22q11.2 / .21. [quoted text clipped - 25 lines] > He is 6 years old and suffering from a number of neurological > problems. Please help. Anybody?? >My son was diagnosed with hyperprolinemia and he has DiGeorge >syndrome. Both problems area related to chromosome area 22q11.2 / .21. >He is lacking an enzyme to convert proline into something else. A short look indicates that "something else" is collagen, perhaps one or more of the 25 known specific types. Collagen is essential to all body cells; it is as much as 65% of all proteins in the body. I also notice many of the visible symptoms of DiGeorge's are bone and cartilage related... >This >is very serious as the build up of L-Proline (30 times out of the top >range) has neurological effects (psychosis, schizophrenia, etc.). When the body is missing an essential factor, it will make attempts to compensate. In many cases this means a precursor will build up when it isn't being converted properly. Proline is a precursor of collagen - this means it uses proline to produce collagen - but your son is missing the enzymes needed to make this happen. Nevertheless his body retains the message that more proline = more collagen, so it keeps producing the proline. See? Richard, I'm not a doctor and you should do your own research and talk with his doctors, but I highly suspect that if your son were getting enough of the end product (collagen) from other sources, excess proline would be much less of a problem. In fact the excess proline may be itself only a symptom of lack of collagen. Collagen is available from animal-sourced gelatin, bone broth, there are supplements, and it can be injected as a supplement if necessary. When looking at collagen supplements, look for low molecular weight. Bone broth is next thing to free if you know a real butcher who cuts up his own meat and will sell or give you bones. Here's a reference that's written in English rather than medicalese: http://thedoctorwithin.com/index_fr.php?page=articles/collagen.php HTH. Carol On Dec 29, 5:29 am, mzlindy...@earthlink.net wrote: > On Fri, 28 Dec 2007 11:15:29 -0800 (PST), Richard > [quoted text clipped - 37 lines] > > Carol Thanks Carol - I'm adding this information to my arsenal to take to the doctors. What you say makes sense. We had some good news this week. His IQ was tested to be quite a bit above average for his age (tested by an ISO certified company). Perhaps its not too late to do something. Thanks again for this info. Richard |
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