DEAR DR. GOTT: My 26-year-old son has been diagnosed with homocysteinemia. It seems that physicians don’t know a great deal about this. I know it is a genetic disease that has something to do with amino acids in his blood. The neurologist who confirmed the disease has told us that he has Marfan-like features (my son is 6 feet 7 inches, 160 pounds and has long limbs). He has had an irregular heart rate for many years that fluctuates from 40 into the hundreds. (His cardiologist said a lot of people have this.) His level was 16 at his last blood test. My research states that a normal level is between 3 and 7, but his family doctor (who admits not knowing much about the disease) said 12 could be normal. The neurologist said his count was high.

What is this disease and what complications can it cause? [Read more...]