biochem q 9 - mdmph

[ArchivalUser]

Your patient has motor weakness and peripheral neuropathy. Tissue biopsy shows an accumulation of phytanic acid. What is the most likely diagnosis?

A. Zellweger™s syndrome

B. HMG-CoA lyase deficiency

C. Leber™s disease

D. Refsum™s disease

E. Favism

[ArchivalUser]

d..refsums dis

[ArchivalUser]

DD

[ArchivalUser]

dd

[ArchivalUser]

ddd
Refsums is neurological disease that results in the malformation of myelin sheaths around nerve cells. It is a peroxisomal disorder leading to peripheral neuropathy.

[ArchivalUser]

dd

[ArchivalUser]

where did we see this d? is it a UW q? thank you