Talk:Maple Syrup Urine Disease

Hey you two,

your entry is nice, it gives a good review of the disease. But we summarised some points that could be improved.

Grammar

rest enzyme activity -> remaining enzyme activity
there is [only] a partial enzyme activity
transformed to derives of CoA -> transformed to derivatives(?) of CoA
which can participate into other metabolic pathways such as citrate cycle -> which can participate in other metabolic pathways such as the citrate cycle
all the genes which encode component enzymes of BCDKC locate on autosomes -> all the genes which encode component enzymes of BCDKC are located on autosomes

You should check the punctuation :)

Suggestions

Maybe it would be better to explain what BCAAs are instead of linking to wikipedia, because this interrupts the reading flow.
You could add the pdb id to the alpha ketoacid dehydrogenase image and maybe choose a representation where the structure is more obvious.

It would be nice to have more details on the how the other symptoms can be explained, which are not due to the change in the pH value. It would be interesting to know what the reason for the neurological dysfunctions is.

only the individual with full disease causing alleles on both copies of an autosome will be ill -> in short: only individuals who are homozygous for the mutated allel develop the disease.

Do they really sequence the whole gene to test for mutations or do they do genetical testing for certain mutations?
<br Do you know if this is the only treatment available or are there plans to develop new treatments ?

Greetings, Alex and Kathi