Biochem 37:Amino acid synthesis and degradation

Question 1

Carbon skeletons of non essential amino acids come from

Answer 1

glucose

Question 2

Quintessential coenzyme of amino acid metabolism

Answer 2

PLP pyridoxal phosphate

Question 3

Kidney stones most often come from

produced from ____(amino acid)

Answer 3

Calcium oxalate

Glycine

Question 4

Lack of transaminase that converts glyoxalate to glycine leads to

Answer 4

Primary oxaluria type 1.

Can lead to oxalate accumluation in kidney which leads to renal failure and stones

Question 5

Cystathionase deficiency leads to

Answer 5

cystathoinauria

benign

seen often in premature infants

Question 6

Cystinuria characteristics

Answer 6

Caused by transport protein defect

leads to kiney stones

Question 7

Cystinosis characteristics

Answer 7

Caused by accumulation in lysosomes

Forms crystals in urine

Renal failure for kids 6-12

Question 8

Asparginase used as

Answer 8

Anti tumor agent

Converts aspargine to aspartate

Question 9

Thiamin deficiency leads to accumulation of

Answer 9

α-keto acids in blood. this is due to inability of dehydrogenases to catalyse reactions.

Question 10

Maple syrup urine characteristics

Answer 10

Branched chain α-keto acid dehydrogenase is defective

α-keto analogs accumlate in urine giving it sugar smell

Question 11

Alkaptonuria characteristics

caused by

Answer 11

Dark urine

cartilage pain

Eye spots

caused by homogentisate oxidase defect ——> homogentisate accumulates

Question 12

Transient tyrosenimia characteristics

Answer 12

Newborn infants , is benign

deficient 4-hydroxyl-phenypyruvate dehydrogenase

Question 13

Pellagra characteristic

Answer 13

Caused by niaacin and tryptophan dietary deficiency

Question 14

DHPR Dihydropterine reductase deficiency

Answer 14

DHPR helps regenerate BH4

Without BH4 phenylalanine cant be converted to tyrosine

Supplementing with BH4 treats condition

Question 15

PKU characteristics

Answer 15

Caused by phenylalanine hydroxilase deficiency.

Treatment is to reduce dietary phenylalanine and supplement with tyrosine

Question 16

Tyrosenemia 1 characteristics

Answer 16

Fumarylacetoacetate hydrolase defect

Fumarylacetoacetate accumulates

liver failure, early death

Question 17

Tyrosenemia 2 characteristics

Answer 17

Tyrosine aminotransferase defect

Tyrosine accumulates

Neuro defects

Question 18

Homocysteinemia characteristics

Answer 18

cystathionine β-synthase defect

homocysteine accumulates

cardiac and neuro complications

Question 19

Vitamin B1 AKA

Answer 19

thiamin

Question 20

BH4 required for

Answer 20

Ring hydroxilation reactions

Question 21

Hartnup disease

Answer 21

Tryptophan cant be absorbed

Niacin becomes essential

Question 22

Major gluconeogenic amino acid

Answer 22

Alanine

Question 23

Stricly ketogenic amino acids

Answer 23

Leucine and lysine