Step 1- Warm-Up And Quick Quiz Biochem

Front 1

Anti-endomysial antibodies

Back 1

Celiac disease

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Anti-thyroglobulin antibodies

Back 2

Hashimoto thyroiditis

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Anti-smooth muscle antibodies

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Autoimmune hepatitis

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18 yo female presents c. moderate generalized abd pain, NL white cell count, and no fever. Parasthesia in her lower extremities. What is her diagnosis?

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Acute intermittent porphyria

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Mechanism and time frame of chronic transplant rejection

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- Vascular damage → mediated by T-cells and antibodies
- Months to years after the transplant

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Rate limiting step in Purine synthesis

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Glutamine PRPP aminotransferase

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Rate limiting step in Pyrimidine synthesis

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CPS-II

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Sources of carbon for Purine synthesis

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Carbon dioxide, Glycine, Tetrahydrofolate

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Sources of carbon for Pyrimidine synthesis

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Carbon dioxide and Aspartate

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Inhibits ribonucleotide reductase

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Hydroxyurea

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Inhibits dihydrofolate

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Trimethoprim and methotrexate

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Inhibits tymidylate synthase

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5-Fluorouracil

Front 13

Inhibits inosine monophosphate dehydrogenase

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mycophenolate

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Inhibits PRPP synthetase

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6-MP

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Key feature of Orotic Aciduria:

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Orotic acid in the urine
Megaloblastic anemia – cannot be corrected with folic acid or B12 supplements
Failure to thrive
No elevation of ammonia (which would be seen in urea cycle deficiency)

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Positive charge of histones

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Lysine and Arginine

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Negative charge of DNA

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phosphate groups

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General products of Phase I metabolism:

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Metabolites: Slightly polar, slightly water-soluble
Reactions: Oxidation, Reduction, and Hydrolysis

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General products of Phase II metabolism:

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Metabolites: Very polar, inactive
Reactions: Acetylation, Sulfation, and Glucuronidation

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Tissue with GLUT-1 receptors

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Brain and RBCs

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How does UV light damage DNA

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UV light pairs thymine to thymine on same strand of DNA

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CPS-I

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Location: Mitochondira
Pathway: Urea Cycle
Nitrogen source: Ammonia

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CPS-II

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Location: Cytosol
Pathway: Pyrimidine synthesis
Nitrogen source: Glutamine

Front 24

45yo male alcoholic gets blisters lesions on sun exposed areas, especially the dorsum of the hand. Pt also has hypertrichosis. Diagnosis?

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Porphyria cutanea tarda

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Rate limiting enzyme of heme synthesis?

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-Aminolevulinic Acid (ALA) synthase
-Converts Glycine + succinyl-CoA → delta-aminolevulinic acid

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Most common clinical scenario of excess Iron ingestion

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Infant consuming iron-fortified vitamins

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Clinical effects of Zinc deficiency

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delayed wound healing, decreased immune response, acrodermatitis enteropathic, anorexia and diarrhea, Growth retardation (kiddos), depressed mental function, Impaired night vision, Infertility

Front 28

Signs of hypocalcemia

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Tetany and neuromuscular irritability, Chvostek’s sign, and Trousseau’s sign

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Organs impacted by Cadmium excess

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Bone: calcium loss → osteoporosis or osteomalacia
Kidney injury
Increased risk of lung cancer

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Organs involved with mercury overdose

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Brain and kidneys

Front 31

Type II hypersensitivity rxn MOA:

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-Abs against self Ags on the surface of cells
-Anti-self Abs bind to the cellular Ags
-Damage by complement and macrophages

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Type III hypersensitivity rxn MOA:

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-Damage caused by complement ad macrophages
-Abs against soluble Ags found in the circulation and interstitium
-Abs bind soluble Ags and form Antibody-Ag complexes (immune complexes)
-Antibody-Ags complexes are deposited into tissues

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Risk factors of esophageal cancer

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-Adenocarcinoma (most common US): GERD, Barrett’s esophagus, smoking, obesity, nitrosamines

-Squamous cell carcinoma (most common world): smoking, alcohol, nitrosamines, pre-existing esophageal pathologies → achalasia, esophageal web, strictures

Front 34

What enzyme is deficient in Lesch-Nyhan Syndrome

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-Enzyme: Hypoxanthine guanine phosphoribosyltransferase (HGPRT)
-Tx: Allupurinol

Front 35

What vitamin in excess can cause hypercalcemia?

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Vitamin D and Vitamin A

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Symptoms of Vitamin A toxicity

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Visual impairment, Fatigue, Ataxia, HA, increased CSF pressure, dry skin, Alopecia, hyperlipidemia, hepatotoxicity, and arthralgias

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Vitamin D supplementation is essential in which chronic conditions?

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Chronic kidney disease and osteoporosis

Front 38

What HA causing condition can be caused from excess vitamin A

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Pseudotumor cerebri, Increased CSF pressure

Front 39

What vitamins have a function similar to reduced glutathione (antioxidant that protects RBCs against oxidative damage)

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Vitamin A, Vitamin C, Vitamin E

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Clinical features of scurvy

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Sore, spongy gums, and loose teeth
Fragile blood vessels
Swollen joints (bleeding into joints)
Impaired wound healing
Anemia

Front 41

Vitamin C is needed for the hydroxylation of which amino acids in collagen synthesis

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Proline and Lysine

Front 42

What is the other name for Vitamin E

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Alpha-tocopherol

Front 43

What are the symptoms of Zinc deficiency?

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Delayed wound healing, decreased body hair and facial hair, hypogonadism, Anosmia (problem with smell), Dysgeusia (problem with taste)

Front 44

Anti-mitochondrial antibodies

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primary biliary cirrhosis

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Anti-TSH receptor antibodies

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Graves disease, this antibodies are actually stimulating the receptor

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Anti-centromere antibodies

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CREST scleroderma

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Anti-basement membrane antibodies

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Goodpasture syndrome

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Anti-neutrophil antibodies, c-ANCA

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Wegener Granulomatosis

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Anti-neutrophil antibodies, p-ANCA

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microscopic polyangiitis and Churg-Strauss syndrome

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Anti-neutrophil antibodies, MPO-ANCA

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pauci-immune crescentic glomerulonephritis

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Most common salivary gland tumor

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Plemorphic adenoma, parotid gland is most common location

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2nd most common salivary gland tumor

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Mucoepidermoid carcinoma, parotid gland is most common location

Front 53

Pt presents c. convulsions and irritability, what is the vitamin deficiency

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Vitamin B6 deficiency

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What type of anemia can be caused by Folate or Vitamin B12 deficiency?

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Megaloblastic anemia

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Where is B12 absorbed into the circulation

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Terminal Ileum

Front 56

Increase RBC fragility

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Vitamin E deficiency

Front 57

Peripheral neuropathy and glossitis

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Vitamin B12 deficiency

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Hemorrhagic disease

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Vitamin K disease

Front 59

Neural tube defects

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Folic Acid deficiency

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Dermatitis, diarrhea, and dementia

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Vitamin B3 deficiency (pellagra)

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Megaloblastic anemia

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Folate or Vitamin B12 deficiency

Front 62

Pernicious Anemia

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Vitamin B12

Front 63

Bitot spots, keratomalacia, xerophthalmia

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Vitamin A

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Osteomalacia and Rickets

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Vitamin D deficiency

Front 65

Can be used to tx acne and psoriasis

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Vitamin A

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Used in oxidation/reduction rxns

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Vitamin B2 and B3

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Used in carboxylation reactions

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biotin

Front 68

Involved in the hydroxylation of prolyl residues

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Vitamin C

Front 69

Requires intrinsic factor for absorption

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Vitamin B12

Front 70

Deficiency may result from kindey disease

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Vitamin D

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Used by pyruvate dehydrogenase and a-ketoglutarate dehydrogenase

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Vitamins B1, B2, B3, B5, Lipoic acid

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Given prophylactically to newborns

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Vitamin K

Front 73

Used to elevate HDL and lower LDL

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Vitamin B3

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Deficiency can be caused by Isoniazid use

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Vitamin B6

Front 75

Cobalt is found within this vitamin

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Vitamin B12

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Critical for DNA synthesis

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Folate and Vitamin B12