Term
What is the name of the genetic syndrome that fits the following description:
1000 fold risk of developing skin CA |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Alcoholics--B1 deficiency--neurologic defects |
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Definition
| Pyruvate dehydrogenase deficiency |
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Term
What is the name of the genetic syndrome that fits the following description:
Abnormal collagen type I synthesis |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Absence of HGPRTase |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Deficiency of aldolase B |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Defective excision repair; thimine dimer formation |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Deficiency of cystathionine synthase |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Heinz bodies |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Musty/mousy odor albinism, eczema, MR |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Galactose-1-P uridyl transferase deficiency--> MR, HSM, cataracts |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Rx: no Nutrisweet, increase tyrosine |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Deficiency of tyrosinase |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Hyperextensible skin, loose joints, bleeding tendency |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Decreased NADPH due to lack of HMP enzyme |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Inherited defect in tubular amino acid transporter |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Rx: Decreased dietary methionine, increased cysteine + B6 |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Decrease in homogentisic acid oxidase |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Hypoglycemia, jaundice, cirrhosis |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Self mutilation, gout, aggression, choreoathetosis |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Blocked degradation of branched amino acid chains |
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Definition
| Maple syrup urine disease |
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Term
What is the name of the genetic syndrome that fits the following description:
Bloating, cramps, osmotic diarrhea |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Rx: acetazolamide to alkalynize urine |
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Definition
| Cystinuria (to prevent stones) |
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Term
What is the name of the genetic syndrome that fits the following description:
Deficiency results in a combined B and T cell deficiency |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Rx: decrease fructose and sucrose intake |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Rx: Increase intake of ketogenic nutrients (fat) |
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Definition
| Pyruvate dehydrogenase deficiency |
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Term
What is the name of the genetic syndrome that fits the following description:
Dark brown urine, organs and connective tissue (benign disease) |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Multiple fractures + blue sclera |
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Definition
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Term
What is the name of the genetic syndrome that fits the following description:
Rx: Exclude galactose and lactose from diet |
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Definition
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Term
| What are the essential amino acids> |
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Definition
Phenylalanine
Valine
Threonine
Tryptophan
Isoleucine
Methionine
Histadine
Arginine
Lysine
Leucine |
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Term
| What is the MOA of lactulose |
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Definition
| Sugary fluid that gets broken down by bacteria and creates an acidic environment in the gut which draws in ammonia, traps it, and allows it to be excreted |
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Term
| What amino acid is the precursor to Histamine? |
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Definition
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Term
| What amino acid is the precursor to Heme, prophyrin |
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Definition
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Term
| What amino acid is the precursor to NO |
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Definition
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Term
| What amino acid is the precursor to GABA |
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Definition
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Term
| What amino acid is the precursor to S-adenosyl-methionine |
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Definition
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Term
| What amino acid is the precursor to Creatine |
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Definition
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Term
What is the rate limiting enzyme for the following metabolic pathway:
Urea cycle |
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Definition
| Carbamoyl phosphate synthetase I |
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Term
What is the rate limiting enzyme for the following metabolic pathway:
Hexose monophosphate pathway |
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Definition
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Term
What is the rate limiting enzyme for the following metabolic pathway:
Fatty acid synthesis |
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Definition
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Term
What is the rate limiting enzyme for the following metabolic pathway:
B-oxidation of fatty acids |
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Definition
| Carnitine acetly transferase I |
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Term
What is the rate limiting enzyme for the following metabolic pathway:
Ketone body synthesis |
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Definition
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Term
What is the rate limiting enzyme for the following metabolic pathway:
Cholesterol synthesis |
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Definition
| HMG CoA reductase (inhibited by -statins) |
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Term
What is the rate limiting enzyme for the following metabolic pathway:
Bile acid synthesis |
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Definition
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Term
What is the rate limiting enzyme for the following metabolic pathway:
Heme synthesis |
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Definition
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Term
| What deficiency causes familial hypercholesterolemia |
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Definition
| Absent or decreased LDL receptors |
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Term
| A 2 year old girl has increased abdominal girth, failure to thrive and skin/hair depigmentation. Dx? |
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Definition
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Term
| A middle aged man has dark spots on his sclera and it is noted that his urine turns dark after sitting for a period of time. Dx? |
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Definition
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Term
| A patient has a genetic disease in which the treatment includes protein restriction to prevent mental retardation, ketoacidosis, death. Dx? |
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Definition
| Maple syrup urine disease |
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Term
| An 18 year old female has moderate abdominal pain, normal WBC and no fever. She has parasthesis in her lower extremities. Dx? |
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Definition
| Acute intermittent porphyria |
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Term
| A 45 year old male alcoholic gets blistering lesions in sun exposed areas especially the dorsum of the hands. He also has hypertrichosis of the face. Dx? |
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Definition
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Term
| What is the tx for homocystinuria? |
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Definition
Increase vitamin B6, B12 and Cysteine in diet
Decrease Methionine |
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Term
Which immunosuppressant matches the following statement:
Precurser of 6mercaptopurine |
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Definition
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Term
Which immunosuppressant matches the following statement:
SE= nephrotoxicity that is preventable with mannitol diuresis |
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Definition
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Term
Which immunosuppressant matches the following statement:
Antibody that binds to CD3 on T cells |
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Definition
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Term
Which immunosuppressant matches the following statement:
Antibody that binds IL-2 receptor on activated T cells |
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Definition
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Term
Which immunosuppressant matches the following statement:
Inhibits calcineurin--> loss of IL-2 production--> blockage of Tcell differentiation and activation |
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Definition
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Term
Which immunosuppressant matches the following statement:
Binds FK-binding protein--> Loss of IL-2 production |
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Definition
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Term
Which immunosuppressant matches the following statement:
Binds FKBP-12--> inhibition of mTOR--> inhibition of T cell proliferation |
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Definition
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Term
Which immunosuppressant matches the following statement:
Metabolized by xanthine oxidase, therefore allopurinol increases its toxicity |
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Definition
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Term
Which immunosuppressant matches the following statement:
Can cause phocomelia in fetus if taken during pregnancy |
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Definition
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