ammino acid metabolism

Question 1

Cofactor for transaminations, deaminations, carbon chain transfers

Answer 1

PLP

Question 2

Cofactor one carbon transfers

Answer 2

FH4

Question 3

Cofactor for ring hydroxylations (Phe –> Tyr)

Answer 3

BH4

Question 4

Required amino acid

Answer 4

MV PITTHALL, methionine, valine, phenylalanine, isoleucine, trytophan, threonine, hisitidine, argnine, leucine, lysine

Question 5

Ammino acid that is only essential in childern

Answer 5

arginine, can’t produce in (+) nitrogen balance

Question 6

Enzyme for Phe –> Tyr

Answer 6

Phenylanine Hydroxylase, requires BH4 and NADH

Question 7

simplest amino acid

Answer 7

Glycine

Question 8

Amino a. made in glycolysis

Answer 8

serine, glycine, alanine and cysteine

Question 9

degradation of cysteine causes this

Answer 9

sulfuric acid and PAPS - activated sulfate

Question 10

autosomall recessive condition in which transporter does not get cysteine out of kidney, cause kidney stones

Answer 10

cystinurea

Question 11

ALT in blood indicates this

Answer 11

liver damage

Question 12

oxaloacetate can produce these amino acids

Answer 12

aspartate and asparagine

Question 13

alpha-glutarate can produce these amino acids

Answer 13

glutamate, arginine, glutamine and Proline

Question 14

this accumulates with folate deficiency

Answer 14

FIGLU

Question 15

Phe and Tyr make these

Answer 15

ketone bodies

Question 16

Deficiency in branched chain alpha keto acid dehydrogenase

Answer 16

MSUD

Question 17

sx od MSUD

Answer 17

hypoglycemia, ketoacidosis, elevated plasma and urine amino a. levels

Question 18

tx for MSUD

Answer 18

thiamine, diet low in branched chain amino acids

Question 19

elevation of Phe to toxic levels

Answer 19

Phenylketonuria (PKU)

Question 20

sx of PKU

Answer 20

seizures, cognitive delays, mousy order

Question 21

tx of PKU

Answer 21

Phe restricted diet

Question 22

mimics PKU

Answer 22

dihyftopteridine reductase defect, can’t recylcle BH4

Question 23

Elevation of Tyr

Answer 23

Tyrosinemia II

Question 24

Sx of Tyrosinemia Type II

Answer 24

plaques on hand and feet, MR

Question 25

Tx for Tyrosinemia Type II

Answer 25

Phe and Tyr restricted diet

Question 26

Accumulation of homogentisate oxidase

Answer 26

Alcaptonuria

Question 27

Defect in this enzyme in Alcaptonuria

Answer 27

Homogentisate oxidase

Question 28

sx of alcaptonuria

Answer 28

arthritis and back pain, dark spots in ear cartilage

Question 29

treatment for Alcaptonuria

Answer 29

treat sx

Question 30

Defect in Fumaryloacetate hydrolase, accumulation of Fumaryloacetate leads to succinylacetone

Answer 30

Tyrosinemia Type I

Question 31

sx of Tyrosinemia Type I

Answer 31

enlarged liver, increase in blood NH4+, excess succinylacetone

Question 32

Treatment for Tyrosinemia Type I

Answer 32

Nitosinone, accumulates p-hydroxyphenylpyruvate which can be excreted via urine