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Biochemistry

Key concepts

QuestionAnswer
What transport is impaired by Carnitine deficiency? Fatty acid transport for the cytoplasm into the mitochondria
Which enzyme deficiency is suspected in cases of impaired FA transport from cytosol into the mitochondria? Carnitine deficiency
Which metabolic process is deficient in Carnitine deficiency? Beta-oxidation of fatty acids
What is the result of decreased/low erythrocyte transketolase activity and thiamine deficiency? Wet Beri Beri
Which vitamin is a cofactor for transketolase and Pyruvate dehydrogenase? Vitamin B1
How is Wet Beri Beri presented in an infant? Respiratory distress and feeding intolerance with cardiomegaly and hepatomegaly.
Which part of the process of Collagen synthesis is defective in Ehler Danlos syndrome? Procollagen peptidase deficiency leading to impaired cleavage of terminal properties in the extracellular space.
What type of 2nd messenger are the Calcium sensing receptors? G protein-coupled receptor
What is the mode of inheritance of Familial Hypocalciuric Hypercalcemia? Autosomal dominant
Which two types of transport are carried mediated? Facilitated diffusion and active transport
What are the components of Sucrose? Fructose + glucose
What are the components of Lactose? Galactose + glucose
What are the components of Maltose? Glucose + glucose
How many calories are in a pound of fat? 3500
Why is Pyruvate dehydrogenase complex deficiency treated with purely ketogenic acids? Provide energy in the form of acetyl-CoA without increasing lactate production
What is the eye condition associated with Galactosemia? Cataracts due to galactitol accumulation in the lenses
What are Peroxisomes responsible for? Fatty acid oxidation of VLCFAs
What is the biosynthetic function of Peroxisomes? Creation of cholesterol, bile acids, and plasmalogen.
Which enzyme is mutated in Alkaptonuria? Homogentisate 1, 2-dioxygenase
Which is the most important drug-related intervention to decrease cardiac mortality? Statin therapy
What are the classic findings of Pompe's disease? Macroglossia, hepatomegaly, pulmonary crackles, and heart murmur (cardiomegaly)
Which enzyme is deficient/mutated in Pompe's disease? a-1,4-glucosidase
What is a muscle component elevated in Cori disease? Elevated CK
What ratio is elevated in Ethanol intoxication? NADH: NAD+ ratio is elevated
3 NADH: 1 NAD+. What is the most likely diagnosis? Alcohol intoxication
Epinephrine's alpha-1 effects Vasoconstriction --> elevated BP
Epinephrine's beta 1 effects Increase stroke volume
What is the electron-carrier in steroid synthesis? NADPH
What enzyme catalyzes the rate-limiting step of fatty acid synthesis? Acetyl-CoA carboxylase
What condition is associated with Heinz bodies and hemolytic anemia? G6PD deficiency
What two lipid levels are decreased with fibrates? Triglycerides >> LDL levels
What is the mode of action of fibrates? Stimulate lipoprotein lipase by activation of the PPAR-a protein
What is the function of PEP carboxykinase? Catalyzes an irreversible step in gluconeogenesis
Which enzyme is involved in converting oxaloacetate --> PEP? PEP carboxykinase
What metabolic process is described by: glucose --> pyruvate? Glycolysis
Tyrosine + Phenylalanine = Thyroid hormone
What are the components of thyroid hormone? Phenylalanine and tyrosine
To which complex of the ETC does CN- bind to? Complex IV bounded to iron
Which components are deficient/impaired in hyperchylomicronemia? Lipoprotein lipase and/or Apo CII
What are some adverse effects of Hyperchylomicronemia? Pancreatitis, lipemia retinalis, xanthomas, and milky supernatant
What enzymes are deficient in hypercholesterolemia (type II)? LDL receptor and Apo B-100
What are clinical features of Familial lipidemia type II? Premature atherosclerosis, tendon xanthomas, corneal arcus, xanthelasmas
What are features of Type III Hyperlipidemia? Tuberoruptive xanthomas, xanthoma striatum palmare
Which hyperlipidemia is due to defective of APO-E? Dysbetalipoproteinemia
Created by: rakomi
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