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Hyperprolinemia and its treatment - Online Doctor Chats

Date : 21-Feb-2012
User rating for this question
Very Good Posted in: Genetics
Answered by

General & Family Physician
Practicing since : 2008
Answered : 3393 Questions
User :   hi my name is XXX, i was born with hyperproinemia, i have been suffering for along time with symptoms of tremors, spasms, joint pain in knees, wrists,ankles, i have mood swings, poor concentration, easily bored and i suffer from shakes. ive had loads of blood test and the only thing they have found wrong is my proline levels are 572 which is high. i am not depressed. i am suffering and i just cant get any answers and every time i suggest it might be because of my disorder they just dismiss me because my childhood doctor says it doesnt effect adults but i know it effect the brain and that there is not enough research into this condition. please could you help me i am really suffering and nobody is listening to me, my family and friends have seen symptoms happening so im not imagining it . please i need answers i need to know what is wrong with me and if it is possible that my disorder is causing these symptoms, i should add as a child i was treated with low protein diet and a medication call glycine.
Doctor :   Hello.
Doctor :   Let me read your query.
Doctor :   Give me your age?
User :   im 34
Doctor :   Ok.
Doctor :   Is it hyperproteinemia or hypoproteinemia.
User :   hyperprolinemia
Doctor :   Ok.
Doctor :   Any other treatment was given during your childhood?
User :   no just low protein diet and glycine
Doctor :   Have you consulted any medical geneticist in this regard?
User :   i did find it strange i was treated with glycine
Doctor :   Have you consulted any medical geneticist in this regard?
User :   yes but once they read a letter from my childhood doctor saying it has no effects on adults they didnt seem to care or want to do anymore or investigate anymore
Doctor :   Then you need not worry about it.
Doctor :   When was the last proline levels tested/
User :   few weeks ago and they was 572
Doctor :   Ok.
Doctor :   You did show the result to
Doctor :   treating doctor right?
Doctor :   Hello.
User :   yes my gp has referred me to someone but dont hold much hope as ive seen them before and they took one look at letter for childhood gp and did nothing
Doctor :   Ok.
Doctor :   Are you on any treatment now?
User :   no nothing
Doctor :   Ok.
Doctor :   Is the symptoms present all the time?
User :   no comes and goes
Doctor :   Ok.
User :   after i get shakes and tremors i feel really tierd and need to sleep and ive had dizzy spells
Doctor :   Ok.
Doctor :   Do you have the letter given by the childhood doctor with you?
User :   no in my medical file
Doctor :   Ok.
Doctor :   i would recommend you consult another medical geneticist in this regard to get second opinion.
User :   ive lost faith in them and nobody seems to be listening to me
Doctor :   You have to stay calm.
Doctor :   and explain condition to them.
User :   they just read the letter and thats it they wont help
Doctor :   How many medical geneticist have you met?
User :   ive tried and tried and i get the same result, ive seen a few since i was 16
Doctor :   Ok.
Doctor :   What did they give the explanation for current symptoms?
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