Amino Acid Metabolism Flashcards
Defect in transporters for nonpolar/neutral AAs (esp tryptophan
Failure to thrive, nystagmus, ataxia
Hartnup
Defect in transporter to uptake cystine, arg, lys and ornithine
Can lead to renal calculi
Cystinuria
Phenylaline, Valine, Threonine, Tryptophan, Isoleucine, Methionine, Histidine, Arginine, Lysine, Leucine
Essential Amino Acids
Leu and Lys
Ketogenic AAs
Val, His, Arg, Asn, Glu
Glucogenic AAs
All the Ts plus Ile and Phe
Both Keto and glucogenic
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
Homocysteinemia, Homocysteinuria
Deficiency in phenylaline hydroxylase
Phe can’t convert to Try
Musty urine odor
Patches of unpigmented skin
Developmental disorders
Impaired myelin formation
PKU
Deficiency in BCKD
Accumulation of BCAAs in urine
Mental Retardation
Treat by limiting BCAA consumption
Maple Syrup Urine Disease
Increased activity levels of thyroglobulin -used to make T3 and T4
Graves Disease
Deficiency in tyrosinase
Tyrosine can’t make melanin
Albinism
Loss of dopamine
Try cant convert to dopamine
Vitamin B deficiencies
Parkinsons
Ammonia to Glu and Gln in brain converted to ammonium in liver
Urea Cycle
Ammonia converted to Gln and Ala in tissues-ammonia sent to liver and converted to ammonium
Urea Cycle
NH3 can’t be converted to NH4+
Cerebral HTN and edema
Depletion of glu and gln
Depletion of alpha ketoglutarate
Ammonia Toxicitiy
Made from Gly, Arg, Met
Phosphorylated by CK
Serves as energy source for muscle, brain and spern
Creatine
Elevated in MI
CK-MB
Gln, Pro, His, Arg converted to Glutamine then to which molecule in the anaplerotic pathway?
Alpha Ketoglutarate
Tyr, Asp and Phe converted to which molecule in anaplerotic pathway?
Fumarate
Met, Thr, Ile, Val are converted to which molecule in anaplerotic pathway?
Succinyl CoA
Asparagine is converted to aspartate which is converted to which molecule in the anaplerotic pathway?
OAA
