Glycine

Aspartate

Glutamine

Carbamoyl phosphate is

1) made from what and by what enzyme?

2) deficiency in that enzyme causes what?

3) used to make what (2 diff things)

1) Made by CO₂ and NH₄ by carbamoyl phosphate synthetase

2) causes hyperamonemia type I

3) Used to make pyrimidines w/ PRPP and also in the urea cycle - enters w/ ornithine to make citrulline

It is the enzyme which adds carbamoyl phosphate to ornithine in the urea cycle to make citrulline

Deficiency causes type II hyperammonemia - lack urea production and causes buildup of orotic acid and NH₄

-developmental delay, mental retardation, encephalopathic seizures/coma

causes PKU w/ toxic buildup of phenylalanine and a deficiency of tyrosine - tyrosine is now an essential AA

Sx: mousy (bad) odor, mental retardation

Phenyl Ketone Urea 

what causes it and Sx

deficiency in Phenylalanine hydroxylase - cant turn Phe to Tyr, toxic buildup of Phe, deficient in Tyr

Mousy (bad) odor, mental retardation

two reasons 

1) neuro crest cells failed to migrate

2) tyrosinase is missing so it can't create melanin from tyrosine

Maple syrup urine Dz

-explain it

can't turn the branch chain AAs (Ile, Leu, Val) into Propryonyl CoA, leads to no methmalonyl coa, so it can't enter the TCA cycle at succinyl CoA

-Mental retardation, CNS issues, increase alpha-keto acids int e blood, especially leucine

Homocysteinurea

-causes and Sx

Two ways 1) lack of B12 so the methylTHF to THF which uses homocysteine to methionine needs b12

2) lack of B6, it's needed to turn homocysteine to cysteine (and then on to propryonyl coA - TCA).  

-Buildup of homocysteine causes mental retardation, being tall, osteoporosis / kyphosis, atherosclerosis, and abnormal eye lenses. big ones are thromboses and marfan's-like symptoms

1)Fructose intolerance

2) essential Fructosuria

1) missing Aldolase B

2) missing Fructokinase

Acts to block lipoic acid

This is needed in the pyruvate dehydrogenase complexes to turn pyruvate to Ac-CoA and also

alpha ketoglutarate to succinyl CoA - both get stopped

Can't take galactose to Gal-1-phosphate

causes buildup of galactitol

-Infant cataracts, or cataracts if late

Galactose-1-Uridinyltransketolase

1)what does it do

2)what happens when it's deficient

1) trades Galactose1Phosphate for Glucose1Phosphate, also trades UDP-glucose for UDP-galactose - basically trades phosphate group for UDP group on either sugar so the galactose can be epimerized to glucose in a diff spot

2)deficiency causes a buildup of Galactitol - the toxic byproduct of unmetabolized galactose and causes cataracts.  If inherited deficiency causes infant cataracts

UDP-galactose-4-epimerase

1) what does it do

2) deficiency causes what

1) turns UDP-galactose into UDP-glucose - uses the galactose product of gal1-uridnyl-transketolase did

2) is another form of galactose metabolism deficiency, causes buildup of UDP galactose, backs up to cause increase Galactitol

-causes cataracts, if inherited = infant cataracts

Pyruvate can become 4 different things

What are they and how do they get there (enzyme)

1) Acetyl CoA via pyruvate dehydrogenase complex - to TCA or ketones, or cholesterol (both via HMG) or F.A. synthesis (via malonylCoA)

2) Oxaloacid via pyruvate carboxylase (needs biotin) - useful to replenish TCA or bounce up for gluconeo

3) Alanine via (ALT) alanine transferase) alanine then used for fuel back to pyruvate in other organs

4) Lactic acid via lactic acid dehydrogenase (LDH) (needs NADH) useful in anaerobic (RBCs) - can be turned back into pyruvate in liver for TCA fuel

-Alanine via ALT

-Lactic acid via LDH 

-3carbon AAs : Ser, Cys, Trp

-Oxaloacid indirectly - PEP carboxykinase makes PEP which becomes pyruvate in next step

-NOT AcCoA! the pyruvDehydro is a COMMITMENT STEP

What can become Propryonyl CoA

-3 types of things

1) Branch Chain Fatty Acids go here

2) Branch AAs Ile, Leu, Val - can't do so in maple syrup urine Dz

3) Homocysteine to cysteine then to the molecule listed above - this requires B6, deficient causes homocysteinuria

What cofactor vitamin or molecule is needed to turn

1) Dopa to Dopamine

2) DA to Norepi

3) Norepi to Epi

1) B6 pyridoxamine

2) Vit C ascorbic acid

3) a methyl group from SAM (becomes SAH) (SAM the methyl carrying man)

SAH becomes SAM by getting a methyl from Methionine which becomes homocysteine

SAM drops a methyl to Norepi to make Epi, SAM becomes SAH

blocks pyruvate to AcCoA so cant cycle the TCA, also block AlphaKetoGlutarate to Succynl CoA

Treat with Lysine and Leucine - they become Propryonyl CoA (becomes methylmalonylCoA, becomes Succinyl CoA) enters TCA to do part cycle makeing FADH and NADH and allows interaction w/ Urea Cycle - ends at Oxaloacid b/c needs AcCoA to go further

Glut 2 is ALWAYS expressed on cell surface of liver, beta cells in pancreas, and renal tubules.  Is high capacity and low affinity.  lets glucose in to do glycolysis and stimulate insulin release in pancreas, or lets liver suck up tons of glucose for glycogen synthesis

Glut 4 is induced by insulin, is high affinity and low capacity.  Typical on Adipose tissue and Striated muscle (Cardiac & Skeletal)

Assuming good nourishment, then sudden poor nourishment, the stores of these vitamins will last how long?

A,D, E, K, B 12, 6, 1, 4, and other water soluble vitamins

A 6mo

D variable base on sun, but about a couple months

K 1-3 weeks (be aware also made by gut bacteria)

B12 2 years

water soluble and other B vitamins are flushed quickly, about a few weeks

it is a cofactor needed to turn 

phenylalanine to tyrosine to dopa to dopamine and to catechols

Also tryptophan to intermediate to serotonin

all these enzymes are hydroxylases