Amino Acid Metabolism

Question 1

Defect in transporters for nonpolar/neutral AAs (esp tryptophan
Failure to thrive, nystagmus, ataxia

Answer 1

Hartnup

Question 2

Defect in transporter to uptake cystine, arg, lys and ornithine

Can lead to renal calculi

Answer 2

Cystinuria

Question 3

Phenylaline, Valine, Threonine, Tryptophan, Isoleucine, Methionine, Histidine, Arginine, Lysine, Leucine

Answer 3

Essential Amino Acids

Question 4

Leu and Lys

Answer 4

Ketogenic AAs

Question 5

Val, His, Arg, Asn, Glu

Answer 5

Glucogenic AAs

Question 6

All the Ts plus Ile and Phe

Answer 6

Both Keto and glucogenic

Question 7

Caused by PLP mutation and homocystine methyltransferase (needs B12) issues

Caused by inability of methionine to be converted to cystathionine

Buildup of homocystine in blood and urine

Answer 7

Homocysteinemia, Homocysteinuria

Question 8

Deficiency in phenylaline hydroxylase

Phe can’t convert to Try

Musty urine odor
Patches of unpigmented skin
Developmental disorders
Impaired myelin formation

Answer 8

PKU

Question 9

Deficiency in BCKD
Accumulation of BCAAs in urine
Mental Retardation
Treat by limiting BCAA consumption

Answer 9

Maple Syrup Urine Disease

Question 10

Increased activity levels of thyroglobulin -used to make T3 and T4

Answer 10

Graves Disease

Question 11

Deficiency in tyrosinase

Tyrosine can’t make melanin

Answer 11

Albinism

Question 12

Loss of dopamine
Try cant convert to dopamine
Vitamin B deficiencies

Answer 12

Parkinsons

Question 13

Ammonia to Glu and Gln in brain converted to ammonium in liver

Answer 13

Urea Cycle

Question 14

Ammonia converted to Gln and Ala in tissues-ammonia sent to liver and converted to ammonium

Answer 14

Urea Cycle

Question 15

NH3 can’t be converted to NH4+
Cerebral HTN and edema
Depletion of glu and gln
Depletion of alpha ketoglutarate

Answer 15

Ammonia Toxicitiy

Question 16

Made from Gly, Arg, Met
Phosphorylated by CK
Serves as energy source for muscle, brain and spern

Answer 16

Creatine

Question 17

Elevated in MI

Answer 17

CK-MB

Question 18

Gln, Pro, His, Arg converted to Glutamine then to which molecule in the anaplerotic pathway?

Answer 18

Alpha Ketoglutarate

Question 19

Tyr, Asp and Phe converted to which molecule in anaplerotic pathway?

Answer 19

Fumarate

Question 20

Met, Thr, Ile, Val are converted to which molecule in anaplerotic pathway?

Answer 20

Succinyl CoA

Question 21

Asparagine is converted to aspartate which is converted to which molecule in the anaplerotic pathway?

Answer 21

OAA