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Biochemistry
Key concepts
| Question | Answer |
|---|---|
| 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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