PART 3

Question 1

Rare, inherited disorders of amino acid metabolism

Answer 1

Aminoacidopathies

Question 2

Autosomal recessive trait

Answer 2

Phenylketonuria

Question 3

Reference method in the new born in HPLC

Answer 3

1.2-3.4 mg/dl (70-200 umol/L)

Question 4

• Characterized by excretion of tyrosine and tyrosine catabolites in urine

Answer 4

Tyrosinemia

Question 5

• accumulates in connective tissue causing generalized pigmentation of these tissues (Ochronosis, an arthritis-like degeneration

Answer 5

Alkaptonuria

Question 6

Characterized by burnt sugar odor of the urine, breath, and skin

Answer 6

Maple syrup urine disease

Question 7

• Deficiency of isovaleryl-CoA dehydrogenase in leucine pathway
• “sweaty feet” odor

Answer 7

Isovaleric acidemia

Question 8

• Results from inherited enzyme deficiencies in the urea cycle

Answer 8

Citrullinemia

Question 9

• a defect in the amino acid transport system rather than a metabolic enzyme deficiency

Answer 9

Cystinuria