Can someone please help me to do some research on fumaric acid?
I need to know what role it plays in the body and how an excess or deficiency can be controlled, if at all.
“Fatima has high level of Fumaric Acid, this is one of the organic acids in the body. See if you can find out anything. Cause for this is that both parents have a recessed gene which created this condition, and in the future there is a 25% chance that the next child will have this condition.”
Fatima is my nephew’s daughter. She is almost 2 and a half years old yet has not developed passed the age and behaviour of a child that does not yet crawl. Some have referred to her as having “flacid palsy” and have suggested that with physio therapy she will improve. However, with genetics tests the above mentioned deficiency in fumaric acid has come to light.
I would like to find out more about what this acid is, what it does and what can be done to improve the quality of her life.
i can try to look something up for u, but i wonder whether the consulting geneticist said something? Cuz of all ppl, he or the pediatrician shud know the exact role of this substance
Muzna, I'm wondering if what Fatima has is the same thing as my cousin's daughter. She's approaching four years old and can't sit up or crawl. She coos a little bit and smiles and laughs but that is it, she can't say any word or even babble. It's so sad, I hope Fatima doesn't have that inshallah. Bismah also has seizures. They went on to have another kid and mashallah he is fine :)
the body/cells have a certain process in which various energy sources (glucose/fats/amino acids) are converted into substances that are directly accessible for energy. You could call it a cross road, where various paths cross, and all have a common final path that leads to energy. This cross road consists of various steps, each of which supplies small amounts of energy. Fumaric acid is at one of the very last of these steps. Fatima has a disorder that prevents her cells from taking this last step. The rest of the process provides enough energy to her body to grow and act etc, but apparently it's not enough.
I don't think this disorder can be cured ...cuz it's a defect inherent to the organism. With respect to other strategies to optimize the steps she does have, i think again the geneticist can tell u more
hmmm Muzna......let me try another analogy. Perhaps it won't be that to-the-topic or perhaps even not that respectful, but i hope it will make things clearer:
if you are putting together a desk, or following a recipe (in this case the recipe of the cell that produces energy), you follow certain steps as pre-determined in the manual. You perform them step by step. Suppose for some reason, a joint or a bolt is missing, (or a certain ingredient for your recipe) you will still be able to make the end-product (the desk or the dish), however it will not be fully complete: depending on the importance of the missing link it might be from mildly to severely deficient. In this case Fatima is missing an processor that can degrade fumaric acid and contribute the last step in producing energy for the body: in other words, she will have energy but not fully complete/enough.
i hope this makes a bit more clear.
As for the question to the geneticist:
you could ask whether a certain diet could help improve the condition? or perhaps reduce the deterioration?
whether certain life style would help: too much exercise (not) allowed?
does he know about the other children in his outpatient whom he can use as reference guide and tell you about the prognosis for the next 5/10 yrs for Fatima?
such diseases are VERY rare, and thus treatment research is in its early days. theoretically gene therapy (inserting a cloned gene into her body) could provide the answer, but such treatments are still in their developmental phase, and it will take years (5-10-15 yrs at least) before such treatments reach a stage where it can be thought of using them in humans. (this is another reason why one might support genetic research and genetic engineering.....cuz this is the only REAL cure for such diseases)