Catecholamine Synthesis pg 107-108

Question 1

Homocystinuria is a problem of what enzyme? What is the cofactor needed for homocysteine? What amino acid becomes essential?

Answer 1

Cystathione Synthase

B6

Cysteine

Question 2

What is the typical presentation of homocysteinuria? How is Homocysteinuria presentation going to be different from Marfan?

Answer 2

MR patient with tight joints, stroke/MI, osteoporosis, kyphosis and Lens subluxation (up)+Marfanoid Habitus

Homocysteinuria: MR, tight joints, upward retinal detachment

Marfan: Normal Intelligence, ReLax joints, Downward retinal detachment

normaL, Laxed joints and Lowered/downward retinal detachment

Question 3

Cysteinuria

Answer 3

Go to kidney chapter