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48 Cards in this Set

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  • Back
A girl who has repeatedly had hypoglycemic episodes presents with:
-ketonemia along with an appropriately low insulin level

Blood Alanine is abnormally low; however, infusion of alanine produces a rapid rise in blood glucose. What is the most likely defect?
Protein Catabolism in muscle
Under fasting conditions, what is the primary substrate for Gluconeogenesis?
Alanine derived from muscle protein
What 2 AA's are predominantly present in Histones?
Lysine & Arginine = positively charged & bind tightly to negatively charged DNA
What does Pyruvate Kinase deficiency cause?
Hemolytic Anemia

*normally converts PEP -> Pyruvate in Glycolysis
What is the most important buffer WITHIN cells? Extracellularly?
Within = Phosphate

EC = Bicarbonate
Women on a fat-free diet notices that her "hair is falling out"...what is this due to?
Vitamin A
Vitamin that is a lipid antioxidant that is important in the stabilization of cell membranes
Vitamin E
From which intermediate in the glycolytic pathway does the Pentose Phosphate Pathway shunt?
What is the purpose of the Pentose Phosphate Pathway?
Alternative route for the oxidation of glucose
-supplies NADPH = for fatty acid & cholesterol synthesis
-supplies Pentoses = synthesis of Nucleotides & some coenzymes
Proteins destined for the Cytosol & organelles are synthesized where?
"free" ribosomes
Proteins destined to be secreted from a cell are synthesized where?

**vs. cytosol-bound proteins = "free" ribosomes
A 25-year old woman with Type I Diabetes Mellitus has maintained good glycemic control for several years. Recently she has gained 10 lbs. & joined a group exercise program. By the end of her first 1-hr aerobics session, she is dizzy, nauseated, & feels faint. Which underlying mechanism is the most likely explanation for this episode?
Translocation of GLUT4 to the cell membranes of Myocytes due to increased AMP associated with exercising muscle

*this is INDEPENDENT of Insulin
What is the mechanism by which cells secrete plasma proteins?
Constitutive Exocytosis
-also involved with supplying the PM with newly synthesized lipids & proteins
An infant PKU would be expected to be deficient in which of the following nonessential AA's?
WHat structure is common to all Sphingolipids?
What is involed in the oxidation of Fatty is important in transferring FA's from the Cytoplasm into the Mitochondria
9 year old girl with mental retardation has elevated levels of Isoleucine, Leucine, & Valine. What enzyme is deficient & what is the disease?
Branched Chain Ketoacid Dehydrogenase

Maple Syrup Disease

*I Love Vermont Maple Syrup
What enzyme is deficient in Homocystinuria? What cofactor is needed?
Cystathionine Synthase

Urea cycle enzyme deficiency associated with Hyperammonemia
Ornithine Transcarbomoylase deficiency
Glycogen storage disease caused by Glucose-6-Phosphatase deficiency
von Gierke
2 month old has severe fasting hypoglycemia, hepatomegaly, & lactic acidosis
von Gierke disease = Glucose-6-phosphatase deficiency
A 2-year-old child is brought to the pediatrician b/c of hematuria. Examination reveals HTN & an abdominal mass. A tumor is localized to the right kidney & biopsy reveals a stroma containing smooth & striated muscle, bone, cartilage, & fat, with areas of necrosis. What disease & what chromosome?
Wilm's tumor

Chr. 11
Chromosome that is the site of a tumor suppressor gene involved in the pathogenesis of colon CA & Familial Adenomatous Polyposis
Chr. 5 = APC tumor suppressor
Chr. that contains the Retinoblastoma gene. What other cancer is the person susceptible to?
Chr. 13


**Chr. 13 is also site of BRCA-2
What 3 important genes are contained on Chr. 17?


What chr. is NF-2 gene on?
Syndrome characterized by bronchiectasis, sinusitis, & situs inversus
Kartagener syndrome = absence of inner or outer dynein arm
Sphingomyelinase deficiency that results in progressive neurodegeneration, hepatosplenomegaly, & cherry-red spot on retina
Niemann-Pick disease
HExosaminidase A deficiency that occur commonly in Ashkenazi jews
Fibrillin deficiency resulting in a person who is tall & thin, fingers are spider-like (arachnodactyly). Displaced lens of the eye & aortic dilation leading to aortic aneurysm
Marfin Syndrome
Liver & Steroidogenic tissues have this receptor that recognizes HDL & mediates transfer of Cholesterol into these tissues
Scavenger Receptor SR-B1
This acts as a carrier of "activated carboxyl" groups for 3 key enzymes that catalyze carboxylation reactions. Symptoms of deficiency include dermatitis & enteritis
Dermatitis, diarrhea, & dementia
Pellagra = niacin deficiency
Vitamin deficiency that leads to convulsions, hyperirritability. It's deficiency is can be induced by Isoniazid or Oral Contraceptives
B6 = Pyridoxine
Vitamin deficiency in which person presents with lesions of the lips, mouth, skin, & genatalia
Riboflavin = B2
What does the Nucleolus manufacture?
rRNA = ribosomal RNA = protein production capability
Where does Uric Acid come from?
What are Glucose molecules complexed with during Glycogen synthesis?

Glucose-1-Phosphate + UDP -> UDP-Glucose + PPi
When is GTP made in the TCA cycle?
Succinyl-CoA -> Succinate
What is Hereditary Fructose Intolerance due to a deficiency of? What 2 sugars should the patient avoid?
Aldolase B

Fructose & Sucrose & Sorbital
In the Citric Acid Cycle, Succinate Thiokinase catalyzes the cleavage of the Succinyl-CoA thioester bond with formation of a high-energy compound. What is this compound & what biochemical pathway is it used in?

Elongation of the Polypeptide chain
What AA has the best buffering capacity?
Histidine = pKa is within range of the pH range
What AA can be a precursor of Niacin?
Disease that presents as muscle weakness & can also cause cataracts, testicular atrophy, heart disease, dementia, & baldness. What disease & what chromosome?
Myotonic Dystrophy

Chr. 19
In what Carbon form does Glucose enter the TCA cycle?
Explain the timeline & processes involved in energy usage & production in a marathon runner
ATP stores are used up in 1 second

Creatine phosphate will be the primary source of energy for the next 3-4 seconds

Glycolysis occurs after this

After extended periods of time = Gluconeogenesis & Lypolysis
Which enzyme in the TCA cycle would need Riboflavin to be active?
Succinate Dehydrogenase = needs FAD
What type of Amino Acids are present on the surface of protein molecules?
Hydrophilic = Aspartate, Glutamate, Lysine, & Arginine (Histidine possibly)