EPISODE · Aug 18, 2026 · 10 MIN
Homocystinuria Mechanism
from The Scattered Stethoscope
One blocked enzyme, two roads, and the lab pattern that tells you which one is closed. This works the pathway on the board — methionine to SAM to SAH to homocysteine, and then the two things the body can do with homocysteine once it's there. When CBS is blocked, homocysteine piles up and methionine climbs with it, which is why a high homocysteine alone doesn't tell you anything and the methionine does. Also covers how homocysteine damages fibrillin at the disulfide bonds, and why cysteine becomes an essential amino acid in these patients. For the brain that needs it different.
Embed this episode
Ready to play
Homocystinuria Mechanism
No transcript for this episode yet
Similar Episodes
No similar episodes found.
Similar Podcasts
No similar podcasts found.