Flashcards in Biochem Deck (92):
1
Only secondary AA
proline
2
Glucogenic essential AA
Met
Val
His
3
Ketogenic essential AA
Leu
Lys
4
Glucogenic/Ketogenic essential AA
Isoleucine
Phenylalanine
Threonine
Tyrptophan
5
Charge of acidic AA at body pH
negative
6
Acidic AA
Asp
Glu
7
Charge of basic AA at body pH
Positive
His has NO charge
8
Basic AA
Arg
Lys
His
(arg and lys are high in histones to bind negatively charged DNA)
9
Which AAs have 3 titratable protons?
Acidic AA (Asp, Glu)
Basic AA (Arg, Lys, His)
Cysteine
Tyrosine
10
Only urea cycle disorder that is X-linked recessive
ornithine transcarbamylase deficiency
11
AA used NO, Creatinine, Urea
Arginine
12
AA used to make GABA and Glutathione
Glutamate
13
AA used to make Heme
GLycine
14
AA used to make Histamine
Histidine
15
AA used to make Serotonin, Melatonin, Niacin, and NAD+/NADP+
Tryptophan
16
AA used to make Thyroxine, Melanin, Dopamine, NE, and Epi
Phenylalanine
17
What is required in the step from phenylalanine to tyrosine?
BH4 (regenerated from BH2 by dihydropiopterin reductase)
18
What is required in the step from Tyrosine to Dopa?
BH4
19
What is required in the step from dopa to Dopamine?
Vitamin B6
20
What is required in the step from Dopamine to NE?
Vitamin C (Dopamine hydoxylase)
21
What is required in the step form NE to Epi?
SAM
22
What vitamin is needed to synthesize niacin form tryptophan?
B6
23
What is needed to make 5-HT from Tryptophan?
BH4 and B6
24
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)
25
What is needed to make NO from arginine?
BH4
26
What enzyme is deficient in PKU?
Phenylalanine hydroxylate
(or tetrahydrobiopterin cofactor)
27
What builds up in PKU?
phenylalanine
28
How do you treat PKU?
low phenylalanine, high tyrosine diet
29
What enzyme is deficient in Alkaptonuria?
Homogentisate oxidase
30
What builds up in alkaptonuria?
Homogentisic Acid (toxic to joints)
31
What are the 3 causes of homocystinuria?
-Cysthathionine synthase deficiency
-Decreased affinity of cystathionine synthase for pyridoxal phosphate
-Homocysteine methyltransferase deficiency
32
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
33
How do you treat a decreased affinity of cystathionine synthase for pyridoxal phosphate
Give extra B6 and increase cysteine in the diet
34
How do you treat a homocysteine methyltransferase deficiency?
Methionine will be low, so increase it in the diet
35
What causes cystinuria?
defect in AA transporter in renal PCT for Cysteine, Ornithine, Lysine and Arginine (COLA)
36
What causes MSUD?
decreased alpha-ketoacid dehydrogenase (B1= thiamine is cofactor)
37
What builds up in MSUD?
branched amino acids (isoleucine, leucine and valine)
38
What is "tender love and care for Nancy"?
-Thiamine pyrophosphate
-Lipoate
-CoA
-FAD
-NAD
39
What enzymes need tender love and care for Nancy?
-Alpha-ketoacid dehydrogenase
-Alpha-ketoglutarate dehydrogenase
-Pyruvate dehydrogenase
40
CT stain
Vimentin
41
Muscle stain
Desmin
42
Epithelial cell stain
Cytokeratin
43
Neuroglia stain
GFAP
44
Neuron stain
neurofilaments
45
Rate limiting step of glycolysis (and regulators)
PFK-1
(increased by AMP and fructose-2,6-bisphosphate; decreased by ATP and citrate)
46
Rate limiting step of gluconeogenesis (and regulators)
Fructose-1,6-Bisphosphate
(increased by ATP and acetyl-CoA; decreased by AMP and fructose-2,6-bisphosphate)
47
Rate limiting step of TCA cycle (and regulators)
Isocitrate dehydrogenase
(increased by ADP; decreased by ATP and NADH)
48
Rate limiting step of glycogenesis (and regulators)
Glycogen synthase
(increased by G-6-P, insulin and cortisol; decreased by epi and glucagon)
49
Rate limiting step of glycogenolysis (and regulators)
Glycogen phosphorylase
(increased by epi and glucagon; decreased by G-6-P, insulin and ATP)
50
Rate limiting step of HMP shunt (and regulators)
G6PD
(increased by NADP+; decreased by NADPH)
51
Rate limiting step of De novo pyrimidine synthesis
Carbamoyl phosphate synthetase II (needs 2 ATP)
52
Rate limiting step of De novo purine synthesis (and regulators)
Glutamine-PRPP amidotransferase
(decreased by AMP, IMP and GMP)
53
Rate limiting step of urea cycle (and regulators)
Carbamoyl phosphate synthetase I
(increased by N-acetylglutamate)
54
Rate limiting step of fatty acid synthesis (and regulators)
Acetyl-CoA-Carboxylase
(increased by insulin and citrate; decreased by glucagon and palmitoyl-CoA)
55
Rate limiting step of fatty acid oxidation (and regulators)
Carnitine acyltransferase I
(decreased by malonyl-CoA)
56
Rate limiting step of cholesterol synthesis (and regulators)
HMG-COA reductase
(increased by insulin and thyroxine; decreased by cholesterol and glucagon)
57
Rate limiting step of ketogenesis
HMG-CoA synthase
58
What is deficient in Von Gierke disease?
Glucose 6 Phosphate (can't convert G-6-P back to glucose during glycogenolysis)
59
What is deficient in Pompe disease?
Lysosomal alpha-1,4-glucosidase (acid maltase)
60
What is deficient in Cori Disease?
Debranching enzyme alpha-1,6-glucosidase (can't remove last residue)
61
What is deficient in McArdle disease?
Skeletal muscle glycogen phosphorylase (myophosphorylase) so can't get branching glycogen down to 4 untis
62
Which glycogen storage disease leads to cardiomyopathy?
Pompe disease
63
Which glycogen storage disease leads to painful muscle cramps and myogloginuria with strenuous exercise?
McArdle disease
64
Which glycogen storage disease leads to severe fasting hypoglycemia and increased glood lactate with hepatomegaly (increased glycogen in liver)?
Von Gierke disease
65
Which glycogen storage is a mimic of Von Gierke (but normal blood lactate levels)?
Cori disease
66
Which lysosomal storage disease is not AR?
Fabry disease (XLR)
67
What is deficient in Fabry?
Alpha-galactosidase A
68
What builds up in Fabry?
Ceramide trihexoside
69
What is deficient in Gaucher?
Glucocerebroside (Beta-glucosidase)
70
What builds up in Gaucher?
Glucocerebroside
71
What is deficient in Neimann-Pick?
Sphingomyelinase
72
What builds up in Neimann-Pick?
Sphingomyelinase
73
What is deficient in Tay Sachs?
Hexosaminidase A
74
What builds up in Tay Sachs?
GM2 ganglioside
75
What is deficient in Krabbe disease?
Galactocerebrosidase
76
What builds up in Krabbe disease?
Galactocerebroside, psychosine
77
What is deficient in metachromatic leukodystrophy?
Arylsulfatase A
78
What builds up in metachromatic leukodystrophy?
Cerebroside sulfate
79
What is deficient in Hurler?
alpha-L-iduronidase
80
What builds up in Hurler?
Heparin Sulfate; dermatan sulfate
81
What is deficient in Hunter?
Iduronate sulfatase
82
What builds up in Hunter?
Heparin Sulfate; dermatan sulfate
83
LSD causing peripheral neuropathy, developmental delay, optic atrophy and globoid cells
Krabbe disease
84
LSD causing progressive neurodegeneration, hepatosplenomegaly, "cherry-red" spot on macula, foam cells
Neimann-Pick
85
LSD causing Hepatosplenomegaly, pancytopenia, bone crises, aseptic necrosis of femur, crumpled tissue paper macrophages
Gaucher disease
86
LSD causing progressive neurodegeneration, developmental delay, "cherry red" spot on macula, lysosomes with onion skin
Tay Sachs (NO HEPATOSPLENOMEGALY)
87
LSD causing peripheral neuropathy of hands/feet, angiokeratomas, CV/renal disease
Fabry disease
88
LSD causing aggressive behavior and no corneal clouding with some developmental delay, gargolylism, airway obstruciton and hepatosplenomegaly
Hunter syndrome
89
LSD causing central and peripheral demyelination with ataxia and dementia
Metachromatic leukodsytrophy
90
LSD causing developmental delay, gargoylism, airway obstruciton, corneal clouding and hepatosplenomegaly
Hurler syndrome
91
What leads to inability to transport LCFAs into mitochrondria?
Carnitine deficiency
92