Amino Acid Diseases & Disorders

Question 1

Albinism

Answer 1

Defect in Tyrosinase that prevents the synthesis of melanin.

Results in lack of pigment.

Question 2

Alkaptonuria

Answer 2

Defect in Homogentisic Acid Oxidase.

Excess Homogentisic Acid oxidizes the blood to a black color.

Question 3

Phenylketonuria

Answer 3

(Inherited condition)
Defect in Phenylalanine Hydroxylase.

Results in accumulation of Phenylalanine in the body.

Question 4

Maple Syrup Urine Disease

Answer 4

Defect in Alpha-ketodehydrogenase

Results in accumulation of LIV (Lycine/Isoleucine/Valine) in the urine, causing a sweet smell.

Question 5

Methyl malonyl Acidemia

Answer 5

Defect in Mathylmalanyl CoA mutase.

Results in metabolic acidosis.

Question 6

Cystinuria

Answer 6

Defect in absorption of COAL (Cystine, Ornithine, Arginine, Lysine) in the kidneys.

Results in kidney stones.

Question 7

Cystathioninuria

Answer 7

Defect in Cystathionase.

Results in excess of Cystathionine in body.

Question 8

Homocystinuria

Answer 8

Defect in Cystathionine synthase.

Results in excess Homocystathionine in urine and Methionine in blood. (Retardation)

Question 9

Histidinemia

Answer 9

Defect is Histidase.

Results in excess Histidine in the blood/urine.

Question 10

Folic Acid Deficiency

Answer 10

Ingesting Histidine will result in an excess of FIGlu

Question 11

Hartnup Disorder

Answer 11

Defect in the uptake of Tryptophan.

Results in Pellagra-like symptoms.