Thursday, November 3, 2016

Homocysteine metabolism notes for USMLE

Hey!

Let's do a quick and dirty Q&A post :D

Homocysteine metabolism
What are the clinical manifestations of homocystinuria?

Early atherosclerosis
Kyphosis
Lens subluxation
Mitral regurgitation
Marfanoid stature
Osteoporosis

Elevated homocysteine can lead to hypercoaguable state.

What are the types of homocystinuria?

Type 1: Cystathionine synthase deficiency
Type 2: Decreased affinity of B6 for CS
Type 3: Homocysteine methyltransferase deficiency

Which vitamins are involved in homocysteine metabolism?
Vitamin B6 (Pyridoxine)
Vitamin B9 (Folic acid)
Vitamin B12 (Cyanocobalamine)

What is seen in patients with B9 and B12 deficiency?
Increased homocysteine levels will be seen in both B9 and B12 deficiency.
(Only B12 deficiency will cause an increase in methylmalonic acid concentration, B9 deficiency will not.)

That's all!
Balalala :D
-IkaN

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