Disorders of metabolism

Question 1

Maple syrup urine disease

Answer 1

Elevated levels of branched chain amino acids (valine, leucine, and isoleucine) in urine
Defect in keto acid decarboxylase

Question 2

Phenylketonuria

Answer 2

Elevated levels of phenylalanine in blood
Elevated levels of phenyl pyretic acid in urine
Mousy odor

Question 3

Homocystinuria

Answer 3

Marfanoid body habits and ectopic lentis

Elevated levels of homocysteine in urine and blood