case 1 overview Flashcards by Eva McClements

Q

What is homocystinuria?

A

Deficiency of cysthione-B-synthase.
Accumulation of homocysteine and methionine.

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Q

What parts of the body are effected by homocystinuria?

A

Eyes
Brain
Skeleton
Blood vessels.

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Q

What is the treatment of homocystinuria?

A

Trial of vitamin B6 (pyridoxine)
Restrict “natural” protein
Ensure adequate protein intake
Supplement folic acid and B12
Betaine
Aspirin
Avoid combined OCP
Statin / BP treatment.

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