AA, Proteins and Analytical Methods

Question 1

At what pH are Amino acids neutral, positive and negative?

Answer 1

Neutral; pH = 7.4

Negative; pH 7.4

Question 2

Define isoelectric point. What it pH is > or

Answer 2

Isoelectric point is defined at which net charge is zero.

If pH pl = Negative charge

Question 3

Define glucogenesis and state its starting and ending products.

Answer 3

The formation of glucose from non-carbohydrate sources such as amino acids, glycerol or fatty acids. Start and ending products are Fatty acids to Starch/cellulose, glycogen or peptidoglycan respectively

Question 4

Define transamination and state its starting and ending products.

Answer 4

The process of amino group removal or transfer to make different AA. Pyruvic acid and glutamic acid to alanine and alpha-ketoglutaric acid.

Question 5

Define deamination and state its starting and ending products.

Answer 5

The removal of the amino group, forming toxic ammonia. Liver roominess ammonia by detoxification into urea.

Question 6

What are the mechanisms of Overflow aminoaciduria?

Answer 6

Both Urine and plasma levels of amino acid will be elevated due to exceeding the renal threshold.

Question 7

What are the mechanisms of renal aminoaciduria?

Answer 7

Plasma levels are normal but the renal reabsorption is defective so urine levels are increased.

Question 8

What is the defect and symptoms of cystinuria?

Answer 8

Defect in renal tubular reabsorption so increased in urine but not in plasma. Prone to calculi and casting crystals.

Question 9

What is the defect and symptoms of hartnup disease?

Answer 9

Increased excretion. They will have a scaly rash, neurological and muscular abnormalities.

Question 10

What is the defect and symptoms of Fanconi syndrome?

Answer 10

Dysfunction in the proximal convoluted tubule so they can not reabsorb. Ployuria, dehydration, hypokalemia, acidosis and osteomalacia.

Question 11

What is the defect and symptoms of PKU?

Answer 11

Deficient or absent phenylalanine hydroxylase enzyme. Spastic/seizures, low IQ, eczema, feeding dilutes and hypo pigmentation

Question 12

What is the defect and symptoms of Tyrosinemias type 1?

Answer 12

Fumarylactoacetase, cirrhosis and renal damage to fanconi

Question 13

What is the defect and symptoms of Tyrosinemias type 2?

Answer 13

Tyrosine aminotransferase, excessive tearing, abnormal sensitivity to light, eye pain, painful skin lesions

Question 14

What is the defect and symptoms of Tyrosinemias type 3?

Answer 14

Hyroxyphenylpyruvate dioxygenase, Mild retardation seizures and periodic loss of balance/coordination

Question 15

What is the defect and symptoms of alkaptonuria?

Answer 15

Homogentisic acid oxidase; Urine turns brown/ black when exposed to light and air or when alkali is added, cartilage pigmentation

Question 16

What is the defect and symptoms of homocystinuria?

Answer 16

CBS (cystathionine beta synthase); Ocular and skeletal abnormalities. cardiovascular

Question 17

What is the defect and symptoms of MSDU?

Answer 17

Branched chain amino acids, Urine has sweet smell and keystone bodies increased.

Question 18

What is the function of alpha 1 Antitrypsin?

Answer 18

Functions to inactivate protease inhibitors.