High Yield Disease

Question 1

name the condition that is caused by vitamin deficiency in B6, B12, folic acid that hinders the breakdown of methionine… faulty enzyme is cystathione beta synthase

Answer 1

Homocystinuria

Question 2

name the disease that is caused by a defect in the enzyme BCKD which breaks down the branched chain amino acids

Answer 2

Maple Syrup Urine Disease

Question 3

name the condition that is caused by the inability to break down phenylalanine to tyrosine because of defects in the enzyme phenylalanine hydroxylase, causing a musty odor in urine and problems with the brain and neurotransmission.
This is the most common inborn error in metabolism

Answer 3

Phenylketonuria (PKU)