Endocrine, Diabetes and Metabolism

Question 1

Biochemistry: Maple Syrup Urine Disease
Describe maple syrup urine disease:

Answer 1

• Autosomal recessive disorder
• causes mutations in branched-chain alpha- keto acid dehydrogenase complex (BCKDC), important for the breakdown of BCAAs leucine, isoleucine, and valine

Question 2

Biochemistry: Maple Syrup Urine Disease
How do you treat maple syrup disease?

Answer 2

• restricting BCAAs in the diet
• Thiamine treatment

Question 3

Bootcamp: Pathophysiology- Graves Disease
Which of the symptoms of Graves disease are most specific to the autoimmune disease?

Answer 3

Pretibial myxedema and thyroid-associated ophthalmopathy