Aa Metabolism

Front 1

Alanine
converted into pyruvate by?
-ALT/GPT can detect what?

Back 1

-alanine:glutamate transaminase
-(alanine amino transferase/glutamate:pyruvate transaminase) necrotic liver damage

Front 2

Glu, Gln, Asp, Asn enter?
GOT and AST are clinically significant in?

Back 2

-Krebs cycle
-heart, skeletal muscle, liver

Front 3

Glycine cleavage enzyme deficiency leads to?
results in?

Back 3

-non-ketotic hyperglycemia= a rare AR dz of AA metabolism
-severe often fatal neuronal deficiencies

Front 4

Excessive conversion of gly to oxalate leads to?
tx?

Back 4

-kidney stones since Ca-oxalate has a low solubility in H20
-restrict gly in the diet

Front 5

Trimethylamine causes?

Back 5

-smell of ripe fish (N-oxide is used by fish as an osmolyte)

Front 6

Folate deficiency increases?
-causes?

Back 6

-homocysteine
-vascular dz

Front 7

Homocysteinuria?
results in?
tx?

Back 7

-AR, cystathione synthase is defect
-mental retardation, dislocation of eye lenses, bone elongation, osteoporosis, and thrombosis
-high dose of Vit B6 & met restriction

Front 8

What 2 reactions require Vit B12?

Back 8

-methionine synthase and methylmalonyl CoA mutase

Front 9

What causes Oasthouse disease?
-result?
-patients?

Back 9

- AR, defect in Met-uptake in the intestine; so met gets metabolized by bacteria instead
-urine ends up smelling like drying hops
-white hair, mental retardation, convulsions, tachypnea, diarrhea

Front 10

Maple syrup urine dz is caused by?
-patients?

Back 10

-AR defect in branched chain alpha-ketoacid DH; urine smells like maple syrup caused by sotolone (breakdown product of Leu)
-severe mental deficiency, optic atrophy, ataxia, ADHS, axial hypotonia, exertional fatigue, metabolic acidosis, hypoglycemia, elevated liver enzymes, and abdominal pain (early death)

Front 11

what causes PKU (phenylketoneuria) ?
results?
tx?

Back 11

-AR, defect in either phe hydroxylase, or dihydrobiopterine reductase
-seizures, spasticity, irreversible brain damage; "diaper test"= smells like mice urine
-phe restriction until after adolescence; mandatory testing in babies

Front 12

Defect in dihydorbiopterine reductase can also prevent synthesis of?

Back 12

-L-DOPA and 5-OH-trp (affects serotonin and catecholamine synthesis) in tyr metabolism

Front 13

Occulocutaneous albinism is due to?

Back 13

-melanin and pheomelanin (red hair pigment) synthesis defect (in tyr metabolism)

Front 14

Tyrosinemia type I?
-result?

Back 14

-AR, deficiency in fumarylacetoacetate hydrolase
-cabbage like body smell from accumulating tyr, liver + kidney failure, liver cancer

Front 15

Tyrosinemia type II?
results in?

Back 15

-deficiency in tyrosine aminotransferase
-damage to brain, eyes, and skin

Front 16

Tyrosinemia type III?
result?

Back 16

-defect in p-hydroxyphenyl pyruvate oxidase
-causes mental deficiencies, and ataxia

Front 17

Hawksinuria?
result?
tx?

Back 17

-AD, very rare partial defect in p-hydroxyphenyl pyruvate oxidase (PHPO)
-leads to acidemia and produces hawkinsine (chlorine like smell in urine)
-restrict phe + tyr diet first year of life

Front 18

Alkaptinuria?
tx?

Back 18

-deficiency of homogentisate oxidase leads to excretion of homogentisate in urine- really dark when exposed to air "pitch black diapers"
-NONE, not dangerous, pigment accumulates over years= ochronosis

Front 19

In metabolism of Trp what causes yellow color of urine?

Back 19

-Xantenurate and kynurenate

Front 20

Hyperlysinuria/emia?
-result?

Back 20

-deficiency in 1st 2 steps of lys degradation involving saccharopine DH
-mental and physical retardation

Front 21

P5CR deficiency in proline metabolism results in?

Back 21

-Cutis laxa= wrinkled skin, joint laxity, mental retardation
~"super flexible contortionists"

Front 22

P5CS deficiency in proline metabolism results in?

Back 22

-hyperplastic skin, joint laxity, bilateral cataracts, neurodegeneration, hypoprolinemia, temporal urea cycle def, very rare

Front 23

Histidinemia?
dx?

Back 23

-deficiency in histidinase- doesn't cause health problems but gives false + in diaper test that screens for PKU
-lack of urocanate in sweat

Front 24

Name 3 imp func of pro?

Back 24

-sharp angles in proteins (collagen)
-antioxidant (converts pro>glu yielding NADH and FADH)
-osmolyte

Front 25

After a meal food protein is metabolized in diff tissues:
Glu + Gln=
Val, Ile, Leu=
other AA=

Back 25

-intestinal mucosa
-transaminated in muscle, ketoacid then catabolized to liver
-catabolized in the liver

Front 26

Cystinuria?
tx?

Back 26

defect of transporter for dibasic AA Lys, Arg, Cys, and ornithine in the intestine and kidney; failure of kidney to re-uptake cys leads to kidney stones
-maintain neutral to alkaline urine and large urine volume

Front 27

Lysinuric protein intolerance?
results?
symptom relief?

Back 27

defective transporter for dibasic AA in basolateral membrane of kidney and intestine-results in reduced absorption of dietary lys and arg, and reduced re-absorption from primary urine
-urea cycle failure, osteopenia, osteoporosis, high risk for systemic amyloidoses later in life
-dietary protein restriction and citrulline

Front 28

Cystinosis?
tx?

Back 28

defect in cystine transport out of lysosome= cystine crystals, corneal crystals, blindness, rickets, kidney failure, pancreatic insufficiency, hypogonadism, myopathy, poor growth
-cysteamine

Front 29

Hartnup dz?

Back 29

-defect in transporter for large neutral AA, relative trp deficiency results in higher niacin requirement to avoid pellagra

Front 30

Polyamine funct?
inactivation?

Back 30

-required for DNA packing
-synthesis inhibition by inactivating ornithine decarboxylase to treat cancer, seizure, and sleeping sickness