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Biochemistry Q&A

First Aid Q&A: Biochemistry

X-linked recessive deficiency of alpha-galactosidase A resulting in an accumulation of ceramide trihexoside. Symptoms include angiokeratomas and deposition in the vascular endothelium. Diagnosis? Fabry's disease
Galactocerebroside accumulations as a result of galactosylceramide alpha-galactosidase deficiency. Symptoms include optic atrophy, spasticity, and depositions in the brain leading to early death. Diagnosis? Krabbe's disease
Sphingomyelin and cholesterol buildup leading to death by age 3. Disease and deficiency? Niemann-Pick disease; Sphingomyelinase
ADH receptor in the kidney? V2
ADH receptor in vascular smooth muscle? V1
Dark colored joints and cartilage and dark colored urine. Diagnosis and deficiency? Alkaptonuria; homogenistic acid oxidase
Sacroiliac arthritis and eventual loss of mobility in the spine (bamboo spine). Diagnosis? Ankylosing spondylitis
Blocked degradation of branched amino acids. Disease and amino acids? Maple Syrup Urine disease; Isoleucine, leucine, and valine (I love vermont maple syrup!)
In smooth muscle contraction, Ca-calmodulin complex binds this enzyme leading to myosin and actin binding. Myosin light chain kinase; phosphorylates myosin allowing it to bind actin
This molecule, in high concentrations, can activate ATPases, phospholipases, endonucleases, and several proteases resulting in significant cell injury? Calcium
If a compound A has a higher affinity for a receptor than compound B, which will have the higher Km? Compound B; Km is the concentration at which velocity equals Vmax/2. Since A has a higher affinity, it follows that it will achieve Vmax at a lower concentration, and thus have a smaller Km.
Deficiency of uroporphyrinogen I synthetase. Diagnosis and what will be found in the urine? Acute intermittent porphyria; delta-ALA and porphobilinogen
Coagulopathy associated with hypercoagulability. Patient presents with swollen, painful, and red extremities Factor V Leiden deficiency; resistance to activated protein C
In this disorder requiring multiple transfusions, deposition in various tissues such as pancreas, heart, and skin result in RUQ discomfort, browner skin tone, elevated glucose, hemolysis, and restrictive cardiomyopathy. Beta-thalassemia; iron deposition is cause of symptoms
Intrinsic defect in the body's ability to control the absorption of iron. Diagnosis? Hereditary hemochromatosis
Accumulations of this substance in liver, brain, and cornea lead to parkinsonian symptoms,, Kayser-Fleischer rings, asterixis, and dementia. Diagnosis? Wilson's disease; failure of copper to enter the circulation in the form of ceruloplasmin
Symmetrical proximal muscle weakness due to degeneration of the anterior horn cells of the spinal cord. Diagnosis? Spinal muscular atrophy
X-linked recessive disorder leading to progressive muscle weakness starting before age 5 with patients often wheelchair dependent by 10-12 years old. Duchenne's or Becker's; defective dystrophin protein
Where are the GLUT1, GLUT2, and GLUT4 glucose transporters located and which are insulin responsive? GLUT1 are found on RBC's and brain; GLUT2 are found beta islets and hepatocytes; GLUT4 are found on adipocytes and skeletal muscle and are insulin responsive
What type of test is used to determine if a person is a carier of the cystic fibrosis gene? PCR amplification followed by sequencing
What is the binding site of vancomycin and what bacteria are it effective against? Gram positive cocci; it binds to the amino acid sequence D-ala Dala preventing cell wall synthesis.
Syndrome characterized by recurrent sinusitis, bronchiectasis, and situs inversus. Diagnosis? Kartagener's syndrome
What are the 4 characteristics of tetralogy of falot? Pulmonary stenosis, VSD, overriding aorta, and RVH
This defect in the ornithine transcaramoylase leads to mental retardation, seizures, and ultimately death. What is the reason for these symptoms? Hereditary hyperammonemia; the enzyme is a component of the urea cycle and results in elevated ammonia in the blood.
Seasonal allergies are the result of what receptor activation? Histamine 1 receptor (histamine 2 receptors are on gastric parietal cells)
Glycogen storage disease leading to cardiomegaly. Diagnosis and deficient enzyme? Pompe's disease; deficient alpha 1,4-glucosidase
Type I familial dyslipidemia results in an elevation of what lipid? lipoprotein lipase deficiency; elevated TG's rich lipoproteins
What are the 3 elements of Virchow's triad? vessel trauma, stasis, hypercoagulability
CNS tumor associated with tuberous sclerosis? Astrocytoma
This type of cancer is associated with inadequate nucleotide excision repair? Squamous cell carcinoma (xeroderma pigmentosum)
Intracellular second messenger of all hypothalamic hormones, with one exception? PLC-IP3; CRH is the one exception (cAMP)
How do steroids exert their actions upon a cell? Cross membrane, bind cytosolic receptor, travel to the nucleus, increase transcription
This drug works by stabilizing the mitotic spindle preventing microtubules from depolymerizing. Paclitaxel
What is the MOA of bleomycin and it's characteristic toxicity? Incercalates DNA; characteristic toxicity is pulmonary fibrosis
What is the MOA of cyclophosphamide and it's characteristic toxicity? DNA alkylator; hemorrhagic cystitis
Pyrimidine analog that interferes with thymidylate synthase? 5-fluorouracil
Inhibitor of dihydrofolate reductase inhibitor? Methotrexate
What are the essential amino acids? PriVaTe TIM HALL; phenyalanine, valine, threonine, tryptophan, isoleucine, methionine, histidine, arginine, leucine, lysine
What two features distinguish B12 deficiency from folate deficiency? neurological symptoms and elevated methylmalonic acid
Deficiency of this vitamin results in diarrhea, dementia, and dermatitis? Pellagra; caused by B3 deficiency
Disease characterized by skeletal abnormalities, restricted joint movement, coarse facial features, and severe psychomotor impairment with death occurring by age 8? I-cell disease; failure of addition of mannose-6-phosphate
Deficiency of tyrosinase is often the cause of this disorder? Albinism
With obstructive liver disease, would you expect bilirubinemia to be conjugated or unconjugated, urine urobilinogens to be increased or decreased, and urine bilirubin to be increased or decreased, respectively? conjugated; increased urine bilirubin; decreased urine urobilinogen
With hemolytic jaundice, would you expect bilirubinemia to be conjugated or unconjugated, urine urobilinogens to be increased or decreased, and urine bilirubin to be increased or decreased, respectively? Unconjugated; decreased urine bilirubin; increased urine urobilinogen
Chronic alcoholic with severe epigastric pain radiating to the back, nausea, vomiting, hx of gallstones. Increased serum lipase and amylase. Diagnosis? Acute pancreatitis
Deficiency of tetrahydrobiopteran cofactor or this enzyme will result in mental and growth retardation, fair skin, eczema, and a musty body odor? Phenylalanine hydroxylase; PKU
3 month old with history of unusual infection by pneumocystis carinii and candida albicans, also demonstrating failure to thrive. Diagnosis? SCID; attributed ot a deficiency of adenosine deaminase of purine salvage system, unable to complete B and T cell DNA synthesis
What is the treatment for excess oxidized hemoglobin? Methemoglobinemia; treated with methylene blue
Dipalmitoyl phosphatidylcholine is secreted by what cells? Surfactant; secreted by type II pneumocytes
Created by: rahjohnson