Flashcards in Biochem Deck (92):
Only secondary AA
Glucogenic essential AA
Ketogenic essential AA
Glucogenic/Ketogenic essential AA
Charge of acidic AA at body pH
Charge of basic AA at body pH
His has NO charge
(arg and lys are high in histones to bind negatively charged DNA)
Which AAs have 3 titratable protons?
Acidic AA (Asp, Glu)
Basic AA (Arg, Lys, His)
Only urea cycle disorder that is X-linked recessive
ornithine transcarbamylase deficiency
AA used NO, Creatinine, Urea
AA used to make GABA and Glutathione
AA used to make Heme
AA used to make Histamine
AA used to make Serotonin, Melatonin, Niacin, and NAD+/NADP+
AA used to make Thyroxine, Melanin, Dopamine, NE, and Epi
What is required in the step from phenylalanine to tyrosine?
BH4 (regenerated from BH2 by dihydropiopterin reductase)
What is required in the step from Tyrosine to Dopa?
What is required in the step from dopa to Dopamine?
What is required in the step from Dopamine to NE?
Vitamin C (Dopamine hydoxylase)
What is required in the step form NE to Epi?
What vitamin is needed to synthesize niacin form tryptophan?
What is needed to make 5-HT from Tryptophan?
BH4 and B6
What other amino acids need B6 to make their products?
-Phenalanine (Dopa to DA)
-Tryptophan (to niacin and to 5-HT)
-Histidine (to histamine)
-Glutamate (to GABA)
-Glycine (to porphyrin)
What is needed to make NO from arginine?
What enzyme is deficient in PKU?
(or tetrahydrobiopterin cofactor)
What builds up in PKU?
How do you treat PKU?
low phenylalanine, high tyrosine diet
What enzyme is deficient in Alkaptonuria?
What builds up in alkaptonuria?
Homogentisic Acid (toxic to joints)
What are the 3 causes of homocystinuria?
-Cysthathionine synthase deficiency
-Decreased affinity of cystathionine synthase for pyridoxal phosphate
-Homocysteine methyltransferase deficiency
How do you treat cystathionine synthase deficiency?
Methionine will be high and cysteine will be low, so decrease methionine and increase cysteine and B12/folate in the diet
How do you treat a decreased affinity of cystathionine synthase for pyridoxal phosphate
Give extra B6 and increase cysteine in the diet
How do you treat a homocysteine methyltransferase deficiency?
Methionine will be low, so increase it in the diet
What causes cystinuria?
defect in AA transporter in renal PCT for Cysteine, Ornithine, Lysine and Arginine (COLA)
What causes MSUD?
decreased alpha-ketoacid dehydrogenase (B1= thiamine is cofactor)
What builds up in MSUD?
branched amino acids (isoleucine, leucine and valine)
What is "tender love and care for Nancy"?
What enzymes need tender love and care for Nancy?
Epithelial cell stain
Rate limiting step of glycolysis (and regulators)
(increased by AMP and fructose-2,6-bisphosphate; decreased by ATP and citrate)
Rate limiting step of gluconeogenesis (and regulators)
(increased by ATP and acetyl-CoA; decreased by AMP and fructose-2,6-bisphosphate)
Rate limiting step of TCA cycle (and regulators)
(increased by ADP; decreased by ATP and NADH)
Rate limiting step of glycogenesis (and regulators)
(increased by G-6-P, insulin and cortisol; decreased by epi and glucagon)
Rate limiting step of glycogenolysis (and regulators)
(increased by epi and glucagon; decreased by G-6-P, insulin and ATP)
Rate limiting step of HMP shunt (and regulators)
(increased by NADP+; decreased by NADPH)
Rate limiting step of De novo pyrimidine synthesis
Carbamoyl phosphate synthetase II (needs 2 ATP)
Rate limiting step of De novo purine synthesis (and regulators)
(decreased by AMP, IMP and GMP)
Rate limiting step of urea cycle (and regulators)
Carbamoyl phosphate synthetase I
(increased by N-acetylglutamate)
Rate limiting step of fatty acid synthesis (and regulators)
(increased by insulin and citrate; decreased by glucagon and palmitoyl-CoA)
Rate limiting step of fatty acid oxidation (and regulators)
Carnitine acyltransferase I
(decreased by malonyl-CoA)
Rate limiting step of cholesterol synthesis (and regulators)
(increased by insulin and thyroxine; decreased by cholesterol and glucagon)
Rate limiting step of ketogenesis
What is deficient in Von Gierke disease?
Glucose 6 Phosphate (can't convert G-6-P back to glucose during glycogenolysis)
What is deficient in Pompe disease?
Lysosomal alpha-1,4-glucosidase (acid maltase)
What is deficient in Cori Disease?
Debranching enzyme alpha-1,6-glucosidase (can't remove last residue)
What is deficient in McArdle disease?
Skeletal muscle glycogen phosphorylase (myophosphorylase) so can't get branching glycogen down to 4 untis
Which glycogen storage disease leads to cardiomyopathy?
Which glycogen storage disease leads to painful muscle cramps and myogloginuria with strenuous exercise?
Which glycogen storage disease leads to severe fasting hypoglycemia and increased glood lactate with hepatomegaly (increased glycogen in liver)?
Von Gierke disease
Which glycogen storage is a mimic of Von Gierke (but normal blood lactate levels)?
Which lysosomal storage disease is not AR?
Fabry disease (XLR)
What is deficient in Fabry?
What builds up in Fabry?
What is deficient in Gaucher?
What builds up in Gaucher?
What is deficient in Neimann-Pick?
What builds up in Neimann-Pick?
What is deficient in Tay Sachs?
What builds up in Tay Sachs?
What is deficient in Krabbe disease?
What builds up in Krabbe disease?
What is deficient in metachromatic leukodystrophy?
What builds up in metachromatic leukodystrophy?
What is deficient in Hurler?
What builds up in Hurler?
Heparin Sulfate; dermatan sulfate
What is deficient in Hunter?
What builds up in Hunter?
Heparin Sulfate; dermatan sulfate
LSD causing peripheral neuropathy, developmental delay, optic atrophy and globoid cells
LSD causing progressive neurodegeneration, hepatosplenomegaly, "cherry-red" spot on macula, foam cells
LSD causing Hepatosplenomegaly, pancytopenia, bone crises, aseptic necrosis of femur, crumpled tissue paper macrophages
LSD causing progressive neurodegeneration, developmental delay, "cherry red" spot on macula, lysosomes with onion skin
Tay Sachs (NO HEPATOSPLENOMEGALY)
LSD causing peripheral neuropathy of hands/feet, angiokeratomas, CV/renal disease
LSD causing aggressive behavior and no corneal clouding with some developmental delay, gargolylism, airway obstruciton and hepatosplenomegaly
LSD causing central and peripheral demyelination with ataxia and dementia
LSD causing developmental delay, gargoylism, airway obstruciton, corneal clouding and hepatosplenomegaly
What leads to inability to transport LCFAs into mitochrondria?