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71 Cards in this Set
- Front
- Back
Cause of edema, anemia, fatty change in liver, and skin changes
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Protein malnutrition (Kwashiokur)
(Fatty change in liver due to decreased apolipoproteins) |
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Cause of tissue and muscle wasting
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energy malnutrition (Marasmus)
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Cellular site of most fatty acid oxidation (beta oxidation)?
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mitochondria
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Cellular site of acetyl-CoA production?
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mitochondria
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Cellular site of the citric acid cycle?
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mitochondria
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Cellular site of oxidative phosphorylation?
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mitochondria
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Cellular site of glycolysis?
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cytoplasm
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Cellular site of fatty acid synthesis?
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cytoplasm
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Cellular site of HMP shunt?
What types of cells? |
cytoplasm
lactating mammary glands, liver, adrenal cortex, RBCs |
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Cellular site of protein synthesis?
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RER, ribosomes (in cytoplasm)
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Cellular site of steroid synthesis?
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SER
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Cellular site of heme synthesis?
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cytoplasm and mitochondria
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Cellular site of urea cycle?
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cytoplasm and mitochondria
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Cellular site of gluconeogenesis?
What type of cells? |
cytoplasm and mitochondria
Mostly in the liver (secondarily, kidney and epithelial cells) |
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Cellular site of very long chain and odd-numbered carbon branching fatty acids
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peroxisomes
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Uses ATP to add high-energy phosphate group
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kinases
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Does not use ATP to add inorganic phosphate
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phosphorylase
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Removes phosphate group
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phosphatase
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Oxidizes substrate
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dehydrogenase
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adds 1 carbon with the help of biotin
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carboxylase
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Which glucose kinase is uninduced by insulin?
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Hexokinase (fasting state --> glycolysis)
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Which glucose kinase is induced by insulin?
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glucokinase (fed state --> glycogen synthesis)
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Ubiquitous enzyme with high affinity, low capacity
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hexokinase
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Enzyme found in the liver and beta islet cells of the pancreas, low affinity, high capacity
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glucokinase
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Fructose bisphosphatase-2 is active in the __________ state and converts ______________ to ______________
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Fructose bisphosphatase-2 is active in the fasting state and converts fructose 2,6 bisphosphate to fructose-6-phosphate
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Phosphofructokinase2 is active in the ________ state and converts ________ to ______________
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Phosphofructokinase is active in the fed state and converts fructose-6-phosphate to fructose-2,6-bisphosphate
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The inhibition of what glycolytic cofactor would lead to vomiting, rice water stools, and garlic breath?
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lipoic acid inhibition from arsenic poisoning
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What are the 5 cofactors needed in the pyruvate dehydrogenase complex in glycolysis (pyruvate + NAD+ + CoA --> acetyl CoA + CO2 + NADH)?
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1. thiamine pyrophosphate (TPP)
2. riboflavin (B2) for FAD 3. niacin (B3) for NAD 4. pantothenate (B5) for CoA 5. lipoic acid |
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What is the treatment for pyruvate dehydrogenase deficiency?
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Food high in ketogenic amino acids (high fat or high lysine and leucine)
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What does the Cori cycle do?
Where is it? How much ATP is produced or used? |
Lactate ---> 2 pyruvate ---> glucose
In the liver +2 ATP (glycolysis) + 6 ATP - 12 ATP = 4 NET ATP LOST |
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How many of each of the following are produced for each acetyl CoA that enters the TCA?
NADH? FADH2? CO2? GTP? |
3 NADH
2 CO2 1 FADH2 1 GTP |
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How many ATP are produced via the malate-aspartate shuttle (heart and liver)?
In the glycerol-3-phosphate shuttle (muscle)? |
malate-aspartate (heart and liver): 32
glycerol-3-phosphate (muscle): 30 |
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Name the intermediates of the TCA in order.
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Cirtrate
Isocitrate alpha-Ketoglutarate Succinyl CoA Succinate Fumarate Malate Oxaloacetate |
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How many ATP are generated via oxidative phosphorylation for each NADH?
For each FADH2? |
1 NADH --> 3 ATP (starts at complex I)
2 FADH2 --> 2 ATP (starts at complex II) |
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What poisons inhibit electron transport?
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Rotenone, CN-, antimycin A, CO
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What poisons inhibit ATPase?
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Oligomycin
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What poisons cause increased mitochondrial membrane permeability (uncoupling, generate heat)?
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2,4-DNP, aspirin, thermogenin in brown fat
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Irreversible enzyme found in the mitochondria that converts pyruvate to oxaloacetate for gluconeogenesis
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pyruvate carboxylase
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What is required for function of pyruvate carboxylase?
What activates it? |
biotin, ATP
activated by acetyl CoA |
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Irreversible enzyme found in the cytosol that converts fructose 1,6-bisphosphate to fructose-6-phosphate for gluconeogenesis
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fructose-1,6-phosphatase
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Irreversible enzyme found in the ER that converts glucose-6-phosphate to glucose for gluconeogenesis
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glucose-6-phosphatase
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Irreversible enzyme found in the cytosol that converts oxaloacetate to phosphoenolpyruvate for gluconeogenesis
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PEP carboxykinase (requires GTP)
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What type of fatty acids can enter gluconeogenesis? How?
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only odd-chain fatty acids; enter TCA as succinyl CoA
(even-chain make acetyl CoA equivalents) |
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A black patient's blood smear shows Heinz bodies (Hb precipitate) and bite cells. What foods/drugs should HE avoid?
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G6PD DEFICIENCY (X-linked recessive --> inability to regenerate NADPH to keep glutathione reduced --> RBCs subject to oxidizing agents)
fava beans primaquine sulfonamides anti-TB drugs |
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A pt has hypoglycemia, jaundice, cirrhosis, vomiting.
What is the enzyme deficiency? What is the inheritance pattern? What is the treatment? |
FRUCTOSE INTOLERANCE
- Lack of aldolase B --> buildup of fructose-1-phosphate, uses up phosphate --> hypoglycemia - autosomal recessive - reduce consumption of fructose and sucrose |
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A pt is asymptomatic except their blood and urine have fructose in them.
What is the enzyme deficiency? What is the inheritance pattern? |
ESSENTIAL FRUCTOSURIA
- lack of fructokinase - autosomal recessive |
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An infant has failure to thrive, hepatomegaly, infantile cataracts, mental retardation
What is the enzyme deficiency? What is the inheritance pattern? What is the treatment? |
CLASSIC GALACTOSEMIA
- galactose-1-P-uridyltransferase deficiency - AR - exclude galactose and lactose |
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An infant presents with infantile cataracts, galactose in blood and urine, failure to track objects, no social smile.
What is the enzyme deficiency? What is the inheritance pattern? What is the treatment? |
GALACTOKINASE DEFICIENCY
- galactokinase deficiency - AR - exclude galactose and lactose |
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What causes infantile cataracts in essential galactosemia and galactokinase deficiency?
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Buildup of galactitol in the lens of the eye
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Why are the Schwann cells, lens, retina, and kidneys of diabetic patients particularly vulnerable to damage?
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Those tissues have aldose reductase but not sorbitol dehydrogenase --> buildup of osmotically active sorbitol
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Which essential amino acids are only glucogenic?
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Met, Val, Arg, His
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Which essential amino acids are both glucogenic and ketogenic?
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Ile, Phe, Thr, Trp
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Which amino acids are only ketogenic?
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Leucine, Lysine (give in pyruvate dehydrogenase deficiency)
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Which amino acids are most necessary during periods of growth?
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arginine and histine
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Which amino acids are highest in content in histones?
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Arginine and lysine (negative)
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Urea is composed of nitrogen and carbon from what original sources?
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NH4+ (N), CO2 (C=O), and aspartate (N)
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A pt presents with tremor, slurring of speech, somnolence, vomiting, cerebral edema, and blurring of vision
- Cause in an adult? - Cause in a small child? - Treatment? |
Ammonia toxicity
- liver disease (hepatic encephalopathy) - urea cycle disorder (e.g. ornithine decarbamoylase deficiency) - reduce protein in diet, give benzoate or phenylbutyrate to bind amino acid |
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Pt presents with orotic acid in blood and urine, decreased BUN, symptoms of hyperammonemia
- What is the enzyme defect? |
ornithine trasnscarbamoylase deficiency
(ddx from orotic aciduria, which has no associated hyperammonemia) |
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What breakdown products would be seen in the urine from the actions of MAO and COMT on the following neurotransmitters:
- dopamine - norepinephrine - epinephrine |
- dopamine --> homovanillic acid
- norepi --> VMA - epinephrine --> metanephrine |
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A young child has mental retardation, growth retardation, seizures, fair skin, eczema, musty body odor. What enzyme(s) could he be lacking?
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PKU!
phenyalanine hydroxylase or its tetrahydrobiopterin cofactor |
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An infant's urine shows elevated phenylacetate, phenyllactate, and phenylpyruvate. What is her treatment?
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PKU (elevated phenylketones)
No Phe in diet, supplement with Tyr |
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A pt has dark connective tissue, pigmented sclera, and her urine turns black on standing. She complains of debilitating joint pain. What enzyme is she missing?
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ALKAPTONURIA
homogentisic acid oxidase (breaks down Tyr) |
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A pt has a lack of tyrosinase. What cancer is she at risk for?
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ALBINO (Tyr --> melanin)
squamous cell carcinoma |
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A pt has mental retardation, osteoporosis, tall stature, kyphosis, lens subluxation, and atherosclerosis.
What dietary modifications should be met? |
- decreased Met, increased Cys, increased B12 and folate (cystathionine synthase deficiency)
- big increased B6 (decreased affinity for pyridoxal phosphate cofactor) |
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Treatment for cystine kidney stones?
Defect? |
Acetazolamine to alkalinize urine
Renal amino acid transporter in PCT |
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A pt with severe CNS defects, retardation, and sweet-smelling urine would likely exhibit excesses of which amino acids in the blood?
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Ile, Leu, Val (branched aa's)
MSUD - decreased alpha-ketoacid dehydrogenase |
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A pt with diarrhea, dementia, and dermatitis has a defective transporter where?
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on renal and intestinal epithelial cells --> excretion of tryptophan (neutral aa) --> inability to make niacin
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A pt presents with severe fasting hypoglycemia, very high liver glycogen, high blood lactate, hepatomegaly. Enzyme deficiency?
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Glucose-6-phosphatase
VON GIERKE'S DISEASE (Type I glycogen storage disorder) |
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A pt presents with cardiomegaly and systemic findings, increased glycogen in liver and muscle. Enzyme deficiency?
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lysosomal 1,4-glucosidase
POMPE'S DISEASE (Type II glycogen storage disorder) |
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A pt presents with fasting hypoglycemia, high liver glycogen, normal blood lactate, mild hepatomegaly. Enzyme deficiency?
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debranching enzyme
CORI'S DISEASE (Type III glycogen storage disorder; milder than type I because gluconeogenesis is intact) |
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A pt presents with painful muscle cramps and myoglobinuria (dark urine) with strenuous exercise. Enzyme deficiency?
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Skeletal muscle glycogen phosphorylase
MCARDLE'S DISEASE (Type V glycogen storage disorder) |