MISSED BIOCHEM

Question 1

Congenital albinism is often due to a deficiency in

Answer 1

Tyrosinase.. Tyrosine is converted to melanin via tyrosinase

Question 2

hyperchylomicronemia is known as

Answer 2

type 1 dyslipidemia

Question 3

hypercholesterolemia is known as

Answer 3

Type2a dyslipidemia

Question 4

combined hyperlipidemia is known as

Answer 4

type 2b dyslipidemia

Question 5

dysbetalipoproteinemia is known as

Answer 5

type 3 dyslipidemia

Question 6

enlarged kidney and liver, slow growth, very low blood sugar, high levels of acid, fats, uric acid.. Liver and kidney effected

Answer 6

Von Gierke Disease

Question 7

enlarged heart and liver, muscle weakness

Answer 7

all organs –> pompe disease (II)

Question 8

cirrhosis or enlarged liver, low blood sugar, damaged muscle and heart , weak bones

Answer 8

Cori Disease (3)

Question 9

weakness, muscle cramps , muscle stiffness, presents with exercise intolerance with second wind phenomenon and myoglobinuria.

Answer 9

McArdle diseaase (5)