Skildum Week 2 Flashcards
(148 cards)
1
Q
What initial substrates can be used to make acetyl CoA?
A
Glucose - Glycolysis
Fatty Acids - Beta Oxidation
Amino Acids - release nitrogen
2
Q
What products are formed from the TCA cycle?
A
3 NADH
2 FAD(2H)
1 GTP
3
Q
Which cells are associated with:
Glut 1 and 3
Glut 2
Glut 4
A
Glut 1 and 3 = most cells (high affinity)
Glut 2 = liver, pancreas (low affinity)
Glut 4 = insulin induced (medium affinity)
4
Q
How does glucose move during the fasted state?
A
Gluconeogenesis and glucogenolysis in liver cells release glucose that follows concentration gradient out Glut 2 and into Glut1, 3 to myocytes.
5
Q
What is produced in aerobic and anaerobic glycolysis?
A
aerobic: net 2 ATP 2 NADH and 2 pyruvate
anaerobic: Net 2 ATP, and lactate to regenerate NAD+
6
Q
Which enzyme catalyzes the first step of glycolysis:
glucose + ATP –> glucose 6-phosphate + ADP
A
hexokinase (most tissues)
glucokinase (in liver)- glucokinase is NOT product inhibited so liver can use glucose as substrate for anabolic reactions when glucose is not needed for energy
7
Q
Which enzyme catalyzes key regulatory step in glycolysis:
fructose 6-P + ATP –> fructose 1,6 BP + ADP
A
phosphofrucktokinase -1 (PFK-1)
Irreversible reaction
8
Q
Which enzyme in glycolysis
PEP + ADP –> pyruvate + ATP
A
pyruvate kinase
substrate level phosphorylation makes ATP
9
Q
What enzyme converts
pyruvate + NADH –> lactate + NAD+
A
lactate dehydrogenase
-recycles NAD+ so glycolysis can continue
10
Q
What enzyme converts
pyruvate to acetyl CoA to enter the TCA cycle?
A
pyruvate dehydrogenase complex
11
Q
What is the Cori cycle?
A
Lactate from RBCs enter liver and is converted to glucose by gluconeogenesis.
12
Q
What is the function of the malate- aspartate shuttle?
A
In cytosol 2 NADH + oxaloacetate –> malate + 2 NAD+
Malate enters mitochondria, in mito:
malate + NAD+ –> oxaloacetate + NADH
Allows NADH to enter the electron transport chain.
Oxaloacetate + amine from glutamate –> aspartate and alpha-ketoglutarate
Aspartate can leave mitochondria (reverted to oxaloacetate again)
13
Q
Which enzyme in glycolysis produces NADH in the cytosol of heart, liver, and kidney cells?
A
glyceraldehyde 3-phosphate dehydrogenase
NADH must be shuttled to mitochondria by malate-aspartate shuttle
14
Q
How does reduced NADH equivalents enter electron transport chain in skeletal muscle and brain?
A
glycerol 3-phosphate shuttle.
Dihydroxyacetone-P + NADH –> glycerol 3 phosphate + NAD+
Glycerol 3 phosphate enters inner mito
Glycerol 3 phosphate + FAD –> dihydroxyacetone + FAD2H
the FAD2H enters electron transport chain
15
Q
Can NADH cross the inner mitochondrial membrane?
A
No, so when it is made in cytosol (glycolysis) must use glycerol 3-phosphate shuttle)
16
Q
When glycogenolysis is induced, what is pathway for glucose to leave liver cells?
A
glycogen –> glucose 1-P –> glucose 6-P –> glucose (then in other cells first step is hexokinase adding phosphate back)
17
Q
What allosteric regulation affects phosphofructokinase-1? (Rate limiting step in glycolysis)
A
AMP = allosteric activator
Fructose 1,6-bisphosphate = allosteric activator
ATP = inhibitor
Citrate = inhibitor
18
Q
What enzyme
2ADP –> AMP + ATP
A
adenylate kinase
19
Q
What enzyme
fructose 6-phosphate + ATP –> fructose 2,6 BP + ADP
A
Phosphofruktokinase 2 (PFK2) shunt off glycolysis
20
Q
How is the PFK-2 kinase domain activated?
A
Activated by AMP and glucagon to make fructose 2,6BP (activates PFK1)
-also activated by phosphorylation by PKA and AMP-K
21
Q
How is pyruvate kinase (PK) regulated?
A
- by concentration substrates and products
- activated by fructose 1,6-BP
- inhibited by PKA
22
Q
Why would increasing PK-M2 (embryonic pyruvate kinase) be favored by cancer cells?
A
PK-M2 binds phosphorylated tyrosines which displaces allosteric activator (fructose 1,6BP) decreasing enzyme activity
-increased rate of glycolysis and block PK = glycolysis intermediates will spill out
23
Q
How does 2,3-BPG affect red blood cells?
A
When bound it promotes T state of hemoglobin, so promotes releasing bound oxygen to tissues
24
Q
Why would body increase 2,3-BPG?
A
Response to lack of oxygen
-smokers, high altitude
Activated when electron transport chain is stopped
25
What is lactic acidosis?
When normal ATP oxidation is blocked, glycolysis provides all ATP. To continue, must regenerate NAD+ by making lactate.
-lactate and H+ in blood decreases blood pH
26
What is ischemia?
loss of blood perfusion and oxygen delivery to tissue
27
What happens when NADH/ NAD+ ratio increases?
Product inhibition on pyruvate dehydrogenase
| Substrates for lactate dehydrogenase (pyruvate and NADH) favors lactate production
28
What happens when AMP/ATP ratio increases?
-Cell needs more energy to be made
AMP allosterically activates PFK-1
AMP activates AMP-K which activates PFK-2 (which will further activate PFK-1)
Increased rate of glycolysis
29
What substrates are used for energy when pyruvate dehydrogenase (PDH) is on and off?
On- uses carbohydrates
| Off- uses fatty acids for energy
30
Which form of stored energy is most prevalent in the body?
triglycerides (fat) > protein > glycogen> glucose
31
Do saturated or unsaturated fats have a lower melting point?
Unsaturated fats since the double bonds lower the melting point (harder to stack)
32
Which enzyme releases fatty acids from storage?
hormone sensitive lipase
33
How is hormone sensitive lipase regulated?
insulin - blocks activity
| glucagon, epinephrine, and norepinephrine- activate the enzyme
34
What transports fatty acids from adipocytes in the blood?
serum albumin
35
What enzyme activates fatty acids in cell cytosol? (these enzymes are specific to FA length)
fatty acyl CoA sythetase adds a CoA "handle" to the fatty acid
Reaction requires 2 ATP
36
Where does beta oxidation of fatty acids take place?
In the mitochondrial matrix
37
How does fatty acyl CoA cross the inner mitochondrial membrane?
the carnitine shuttle
carnitine: palmitoyl transferase 1 (CPT1)
carnitine + acyl CoA --> fatty acyl carnitine + CoASH
Passes through carnitine acylcarnitine translocase into inner mito matrix
Carnitine palmitoyl transferase 2 (CPT2):
CoA + fatty acylcarnitine --> fatty acyl CoA + carnitine
38
What is CPT 2 deficiency and how is it diagnosed?
inherited autosomal recessive disorder
| Diagnosed by increased fatty acyl carnitine (can't be reverted to carnitine and fatty acyl CoA)
39
What are the 4 main steps in fatty acid beta oxidation?
Oxidation
Hydration
Oxidation
Carbon-Carbon bond cleavage
40
What is medium chain acyl CoA dehydrogenase deficiency (MCAD)?
acyl CoA dehydrogenase (first oxidation in FA beta oxidation) doesn't work.
Reye syndrome in infants (fasting hypoketotic anemia,
Diagnosed by high medium chain acyl CoA
41
What is Jamaican vomiting sickness and what causes it?
- hypoglycin is the poison that inhibits acyl CoA dehydrogenase (like MCAD)
- from eating unripe ackee fruit
42
What is the specificity of enoyl CoA hydratase ? (hydration reaction in beta FA oxidation)
only accepts substrates with trans double bonds
| -if cis, must convert to trans using a reductase that consumes NADPH
43
How are odd chain length fatty acids oxidized?
Thiolase (last step, bond cleavage) splits last 5 into acetyl coA and propionyl CoA.
- Propionyl CoA to methylmalonyl CoA (by enzyme propionyl CoA carboxylase)
- methylmalonyl mutase converts to succinyl CoA which enters TCA cycle in the middle
44
How are very long chain (>22Cs) oxidized in FA beta oxidation?
Degraded in peroxisomes, but first step donates electrons to molecular oxygen (and makes H2O2) not FAD
-at 4-6 Cs, go to mitochondria by carnitine based transport
45
How are branched chain fatty acids broken down? (found in plants)
In peroxisomes, make H2O2
| -propionyl CoA: enzymes carboxylase, mutase, then succinyl CoA enters TCA cycle
46
Where does omega- oxidation of fatty acids occur?
in the ER by cytochrome P450. Broken down to medium chain length dicarobxyls which can be used by other tissues or excreted in urine
47
What in body can ONLY use glucose for energy?
red blood cells (they have no mitochondria)
48
What can the brain use for energy?
glucose or ketone bodies (cannot use fatty acids)
49
How is ketone body synthesis regulated?
with increase FA beta oxidation in liver, abundant NADH and acetyl CoA which drives TCA cycle backwards (oxaloacetate goes back to malate)
- Malate leaves for gluconeogenesis
- reduction in oxaloacetate diverts acetyl CoA into ketone body synthesis (not TCA cycle)
50
What is ketoacidosis?
depression of blood pH by excessive ketone body production
| Caused by starvation or diabetes
51
What substance in inner mitochondrial membrane makes it impermeable?
cardiolipin (aggregation of 3 phospholipids)
52
What is special about mitochondrial DNA?
- circular, reproduces by fission
- only 13 genes, but has transcriptional machinery
- hyper mutable
- more naked (no histones
- heterogeneous (multiple copies in each mito)
53
what happens to mito proteins in MERRF (myoclonic epilepsy, muscle tissue has ragged red fibers, progressive dementia)
point mutation in mitoDNA makes tRNA for lysine non functional
-mitochondrial proteins with lysine will be truncated
54
What are the 2 general rules in mitochondrial dysfunction?
- diseases tend to be heterogeneous in severity
| - diseases tend to get progressively worse with age
55
Where are PDH and TCA cycle located?
mitochondrial matrix
56
Which subunits and associated cofactors form pyruvate dehydrogenase (PDH)?
E1- pyruvate decarboxylase (TPP)
E2- transacetylase (lipoate)
E3- Dihidrolipoyl dehydrogenase (FAD, NAD+)
57
PDH is regulated by PDH kinase and PDH phosphatase. What substrates activate and inhibit each?
PDH is active when dephosphorylated
PDH Kinase: activated by acetyl CoA and NADH
-inactivated by pyruvate and ADP
PDH phosphatase: activated by Calcium
So PDH is turned on by pyruvate, ADP, and Calcium
58
In what state (fed or fasted) is PDH turned on?
PDH links glycolysis with TCA cycle
| -want it on when cell needs energy (high ADP)
59
What is the key rate limiting step in the TCA cycle?
Isocitrate --> alpha ketoglutarate
-enzyme: isocitrate dehydrogenase
Produces NADH and CO2
Large negative delta G
60
How is isocitrate dehydrogenase (key TCA cycle step) regulated?
ADP lowers Km (making the enzyme more active)
61
When TCA cycle is stopped, which substrates convert back to previous step?
Isocitrate to citrate
| oxaloacetate to malate
62
How is HIF 1 alpha oxygen sensor linked to the TCA cycle?
HIF 1 alpha is normally hydroxylated and ubiquinated in normal oxygen conditions.
Fumarate will compete with enzyme (prolyl hydroxylase) when it spills from TCA cycle
-without hydroxylation, HIF becomes transcription factor- can cause tumors
63
How is the TCA cycle regulated?
turned on by increased NAD+/ NADH
| enzymes turn off by buildup or by regulation
64
What are the anabolic functions of the TCA cycle?
```
oxaloacetate - amino acid biosynthesis
malate - glucose (gluconeogenesis)
succinyl CoA- heme biosynthesis
alpha ketoglutarate - glutamine - GABA
Citrate - fatty acid biosynthesis
```
65
What enzyme converts pyruvate to oxaloacetate?
pyruvate carboxylase (using biotin as a cofactor)
66
Which enzyme takes 2 ADP after muscle contractions to form ATP and AMP
adenylate kinase
67
the condition myoadenylate deaminase deficiency is caused by...
and causes...
inherited mutations in gene coding muscle specific AMPD1 (AMP deaminase- converts AMP to NH4+ and IMP. IMP goes back to TCA eventually)
-causes long term muscle break down, muscle pain and weakness
Diagnosed: no increase in blood NH4+ after exercising
68
What is complex 1 in electron transport chain?
NADH dehydrogenase. transports 4 protons into intermembrane space.
Iron sulfur centers pass electrons to CoQ
69
What is complex 2 in electron transport chain?
succinate dehydrogenase (reduces succinate to fumarate while making FAD2H)
- enzyme is part of TCA cycle
- does not cross inner mito membrane
70
what does pyruvate carboxylase do?
Converts pyruvate to oxaloacetate (cofactor is biotin)
71
What is complex 3 in electron transport chain?
cytochrome b-c complex.
| pumps 4 protons into intermembrane space
72
What is complex 4 in electron transport chain?
cytochrome c oxidase, takes O2 and makes water
| -puts 2 protons into intermembrane space
73
How does proton gradient make ATP?
APT synthase. translocation of 12 carbons completes 1 turn, makes 3 ATP per turn
74
What is uncoupling?
transfer of electrons from NADH to oxygen without generating ATP
75
What is adaptive thermogenesis?
norepinephrine released when cold
NE activates a lipase which forms free FAs from triacylglycerol
-thermogenin (UCP1) is a proton channel activate to bypass ATP synthase
-make heat without work
76
What is chemical uncoupling?
lipid soluble molecules with pKa near neutral can bind protons, diffuse membrane, and release protons in matrix
ex) Dinitrophenol, and salicylate
77
What is mechanical uncoupling?
damage on membrane from ROS or mito swelling lets protons leak through membrane
78
What is the inner mitochondrial membrane permeable to?
O2, CO2, NH3, H2O
79
What are the 3 basic types of transport systems?
Antiporters transport one molecule in and another molecule out.
ATP / ADP
Symporters transport two molecules in or out.
pyruvate + H+, Pi + H+
Uniporters transport one molecule in or out.
calcium
80
Why does PDH deficiency have mainly neural effects?
the brain needs ketone bodies to function without glucose, and without PDH pyruvate doesn't become acetyl CoA
81
Leigh's disease affects the E1 subunit of PDH. How can this be remedied?
Thiamine (B1) becomes TPP, the carboxylase cofactor associated with E1
82
What are fatty acids used for in the body?
- membranes
| - for energy, store FAs as fat
83
When and where are fatty acids made?
synthesized from acetyl CoA in liver cells whenever ingested calories exceed energy need
-with excess energy isocitrate dehydrogenase is inhibited, so drives citrate toward FA synthesis
84
How is citrate involved in FA synthesis?
oxaloacete + acetyl CoA --> CoASH + citrate. Citrate can leave mitochondria for cytosol
In cytosol: acetyl CoA is reformed (oxaloacetate is converted to malate then pyruvate)
85
Which enzyme converts oxaloacetate to malate?
malate dehydrogenase, also makes NAD+
86
Which enzyme converts malate to pyruvate while generating NADPH?
```
malate decarboxylase (malic enzyme)
-NADPH is used by fatty acid synthase (FAS)
```
87
What is the importance of the pyruvate/ malate cycle in lipogenesis?
- transports acetyl CoA from mitochondria to cytosol
| - malic enzyme generates NADPH to power fatty acid sythesis
88
Which enzyme in fatty acid synthesis converts acetyl CoA to malonyl CoA?
acetyl CoA carboxylase (ACC)
- requires energy (ATP)
- cofactor is biotin
- rate limiting step in FA synthesis
89
What are the 4 main steps in FA synthesis?
Bond formation
Reduction
Dehydration
Reduction
90
Compare and contrast FA beta oxidation and FA synthesis
Same: 2 carbons at a time
Different: beta oxidation in mitochondria and FA synthesis in cytoplasm
-beta oxidation with multiple enzymes and FA synthesis just 1
91
What are the 2 sulfur groups on fatty acid synthase (FAS)?
phosphopantetheinyl group sulfur
| sulfur from cysteine side chain
92
Where does FA synthesis elongation occur?
Endoplasmic reticulum
93
What are the constraints for making unsaturated FAs?
Can't add within 9 carbons from omega end
| ex: need dietary sources of linoleic and linolenic
94
What is used as the backbone for FAs?
glycerol 3-phosphate
95
What components make up a triglyceride?
3 molecules fatty acyl CoA, 1 glycerol 3 phosphate
96
Where is glycerol kinase found in the body?
Only the liver, in other tissues glycerol 3 phosphate is only made during glycolysis (liver can make more)
97
how is phosphotidylcholine made?
choline + CTP makes CDP-choline
| diacylglycerol + CDP-choline --> phosphatidylcholine
98
How is cardiolipin made?
by linking phosphatidyl glycerol (glycerophosphate with glycerol head group) with CDP diacylglycerol
99
What are ether glycerolipids (plasmalogens) and how are they formed?
have ether linkage on 1 carbon of glycerol backbone
| -special roles in specific fibers (myelin sheath)
100
What backbone do sphingolipids have?
ceramide (not glycerol). ceramide is derived from serine and palmitoyl CoA
101
What makes sphingomyelin?
ceramide and choline
102
What makes cerebroside?
ceramide and glucose
103
What is dipalmitoylphosphatidylcholine?
Major component in lung surfactant.
- measured in amniotic fluid to see dev. stage
- ratio with sphingomyelin- when more phosphatidylcholine, closer to birth
104
What is leptin?
hormone that indicates satiety. Levels increase when TAGs are high
-acts in hypothalamus
105
What is used as the backbone for FAs?
glycerol 3-phosphate
106
What components make up a triglyceride?
3 molecules fatty acyl CoA, 1 glycerol 3 phosphate
107
Where is glycerol kinase found in the body?
Only the liver, in other tissues glycerol 3 phosphate is only made during glycolysis (liver can make more)
108
how is phosphotidylcholine made?
choline + CTP makes CDP-choline
| diacylglycerol + CDP-choline --> phosphatidylcholine
109
How is cardiolipin made?
by linking phosphatidyl glycerol (glycerophosphate with glycerol head group) with CDP diacylglycerol
110
What are ether glycerolipids (plasmalogens) and how are they formed?
have ether linkage on 1 carbon of glycerol backbone
| -special roles in specific fibers (myelin sheath)
111
What backbone do sphingolipids have?
ceramide (not glycerol). ceramide is derived from serine and palmitoyl CoA
112
What makes sphingomyelin?
ceramide and choline
113
What makes cerebroside?
ceramide and glucose
114
What is dipalmitoylphosphatidylcholine?
Major component in lung surfactant.
- measured in amniotic fluid to see dev. stage
- ratio with sphingomyelin- when more phosphatidylcholine, closer to birth
115
What is leptin?
hormone that indicates satiety. Levels increase when TAGs are high
116
What is adiponectin?
hormone, leads to suppression of FA synthesis and increased FA oxidation
- decreased in obesity
- stops FA CoA carboxylase
117
What is Kwarshiorkor?
a negative net nitrogen balance (healthy adults excrete as much nitrogen as they consume in 24 hours, children have a positive nitrogen balance)
118
How are amino acids from the blood utilized?
- make proteins
- form nitrogen containing compounds
- spit into carbon for energy and nitrogen goes to urea cycle for excretion
119
What are the symptoms of ammonia toxicity?
neuronal cells are most vulnerable, lethargy, headache, seizures, etc
120
```
What are the corresponding alpha keto acids of:
glutamate
aspartate
alanine
glutamine
```
glutamate - alpha ketoglutarate
aspartate - oxaloacetate
alanine - pyruvate
glutamine - glutamate
121
Why is arginine important in the urea cycle?
- activates synthesis of NAG which activates carbamoyl phosphate sunthetase (CPS 1)
- converted to ornithine and urea by arginase
122
Which enzyme performs the aminotransferase reaction to convert alpha ketoglutarate to glutamate?
glutamate dehydrogenase
123
What are the 2 sources of nitrogen in the body?
- from deamination of amino acids (glutamate dehydrogenase)
| - from transamination of amino acids (glutamate transferase)
124
How does the body cope with long term high nitrogen?
- glutamine increases the transcription of arginosuccinate synthase (in urea cycle converts aspartate to arginosuccinate)
- long term adaptations to excess protein breakdown (high protein diet, starvation)
125
What does elevated urinary orotic acid indicate?
- it's a characteristic of a urea cycle inherited disorder downstream of CPS-1
- ex) high urinary orotic acid when ornithine transcarbamoylase is non-functioning
- inactive arginase (in cytosol) only moderately elevates urinary orotic acid
126
How does nitrogen enter the urea cycle?
- free ammonium
| - aspartate
127
What causes HHH syndrome?
HHH = hyperammonaemia, hyperornithaemia, and homocitruillinaemia,
-inherited defect in ornithine/ citrulline antiporter
128
How do you treat inherited disorders in urea cycle?
Goal is to decrease blood NH4+
- low protein diet
- N-carbamoylglutamic acid (drug that mimics NAG which activates CPS1)
- eliminate nitrogen in alternative pathways (arginine, benzoic acid, phenylbutyrate)
- liver transplant/ hepatocyte transfusion
- viral transduced gene therapy
129
What are the 3 cofactors for enzymes in amino acid metabolism?
PLP (transaminations, deaminations, carbon chain transfers)
Tetrahydrofolate, FH4 (one carbon transfers)
Tetrahydrobiopterin, BH4 (ring hydroxylations)
130
How many essential and non-essential amino acids are there?
- 11 non-essential (made using carbon from glucose and nitrogen from other AAs)
- 9 essential (required in diet. (arginine is essential only for children, not adults)
131
What are the essential amino acids?
M.V. Pitthall
(Methionine, Valine, Phenyalanine, Isoleucine, Tryptophan, Threonine, Histidine, Arginine, Leucine, Lysine)
-arginine is not essential for adults
132
How is tyrosine made?
add OH to para ring position on phenylalanine (without phenylalanine, tyrosine must be eaten)
-uses tetrahydrobiopterin with enzyme phenylalanine hydroxylase
133
How is cysteine made?
uses methionine as precursor
| -both have sulfur groups
134
Which amino acids can be synthesized from glycolytic intermediates? (mainly 3-phosphoglycerate)
glycine, serine, cysteine, alanine
135
What substrates are combined to form cysteine?
serine and a sulfur from homocysteine
136
What does degradation of cysteine make?
Either:
- sulfuric acid (acidifies urine)
- PAPS (an activated sulfate for use in other reactions)
137
What is cystinuria and what does it cause?
- inherited mutation (autosomal recessive) in AA carrier for cysteine and basic amino acids (lysine, arginine, and ornithine)
- cysteine precipitates causing kidney stones
138
What enzyme coverts alanine to pyruvate? and what is accepts the amino group?
```
alanine aminotransferase (ALT) and alpha ketoglutarate accepts the nitrogen to become glutamate
-ALT is normally only found in the liver
```
139
What enzyme converts oxaloacetate to aspartate? what cofactor?
- AST (aspartate aminotransferase)
| - cofactor= PLP
140
What is the major transporter of nitrogen in the blood?
glutamine
| -glutamine synthetase adds a free nitrogen to glutamate
141
What is Maple Syrup Urine Disease?
Autosomal recessive deficiency in branched chain alpha-keto acid dehydrogenase
- elevated plasma and urine Val, Iso, Leu, and keto acids
- fatal when untreated
142
Why does a high dose of thiamine help Maple Syrup Urine Disease?
the enzyme branched chain alpha-keto acid dehydrogenase is like PDH- first subunit decarboxylates with TPP
143
What 2 substrates can phenylalanine and tyrosine be degraded into?
fumarate and acetoacetate
144
What is PKU and what enzyme is affected?
Defect in converting phenylalanine to tyrosine
- problem with phenylalanine hydroxylase
- phenylalanine builds up in brain and blood
145
A defect in which enzyme can appear to be PKU?
problem with dihydropteridine reductase (converts quinonoid kihydrobiopterin BH2 back into tetrahydrobiopterin BH4)
-without BH4, phenylalanine hydroxylase will not function
146
A defect in which enzyme causes Tyrosinemia (type 2)? and what are the symptoms?
- enzyme tyrosine aminotransferase
| - plaques develop on feet and hands, corneal ulcers, mental retardation
147
What is alcaptonuria?
Rare autosomal recessive deficiency in enzyme homogentisate oxidase (in Phe degradation)
- homogentisate accumulates and is excreted in urine giving it a dark color
- not fatal
148
A defect in which enzyme causes Tyrosinema (Type 1)? and what are symtoms? Treatment?
- fumaryloacetoacetate hydrolase (FAH)
- results in accumulation of succinylacetone
- acute hepatic crisis, jaundice, hepatomegaly, elevated AST and ALT, hypoglycemia
- treated with Nitrosinone
