Test your basic knowledge |

Biochemistry Diseases

Subject : health-sciences
Instructions:
  • Answer 50 questions in 15 minutes.
  • If you are not ready to take this test, you can study here.
  • Match each statement with the correct term.
  • Don't refresh. All questions and answers are randomly picked and ordered every time you load a test.

This is a study tool. The 3 wrong answers for each question are randomly chosen from answers to other questions. So, you might find at times the answers obvious, but you will see it re-enforces your understanding as you take the test each time.
1. A 22q11 deletion syndrome. Palate - facial - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.






2. (Pyruvate + NAD+ + CoA --> acetylCoA + CO2 + NADH; 3 enzymes - requires B1 -2 -3 - CoA - lipoic acid). Pyruvate - alanine accumulate --> lactic acidosis (pyruvate to lactate). Congenital or acquired (e.g. alcoholics - B1 deficiency - lactic acidosis!






3. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of arylsulfatase A - cerbroside sulfate accumulates. Central / peripheral demyelination - ataxia - dementia.






4. A 22q11 deletion syndrome. Thymic - parathyroid - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.






5. Rickets in children (bending bones); osteomalacia in adults (soft bones). Also hypocalcemic tetany.






6. Energy malnutrition. Tissue / muscle wasting - loss of subQ fat - variable edema.






7. Mitochondrial inheritance (only transmitted via mom); degeneration of retinal ganglion cells / axons; acute loss of central vision

Warning: Invalid argument supplied for foreach() in /var/www/html/basicversity.com/show_quiz.php on line 183


8. Lysosomal storage disease (a sphingolipidosis) - Aut - rec deficiency of beta - glucocerebrosidase; glucocerebroside accumulates. Hepatosplenomegaly - aseptic necrosis of femur - bone crises - Gaucher's cells (macrophages that look like crumpled tiss

Warning: Invalid argument supplied for foreach() in /var/www/html/basicversity.com/show_quiz.php on line 183


9. Aut - rec - 3 forms. All interfere with conversion of methionine to cysteine - cysteine becomes essential; homocysteine accumulates. Causes: 1) cystathionine synthase deficiency (Tx: dec Met - inc. Cys intake. Inc B12 / folate in diet to drive conver






10. Severe vitamin B3 (niacin) deficiency (less severe = glossitis). Diarrhea - dementia - dermatitis. Can be caused by Hartnup disease (dec. tryptophan absorption) - malignant carcinoid syndrome (inc tryptophan metabolism) (B3 made from tryptophan) and






11. X- linked rec; most common urea cycle disorder (others aut - rec). Can't eliminate ammonia; often dx'd perinatally but can be later. Dx: orotic acid in blood / urine (excess carbamoyl phosphate converted to orotic acid) - dec. BUN - hyperammonemia sx






12. X- linked recessive - absence of HGPRT (hypoxanthine to IMP - guanine to GMP in purine salvage pathway). Can't salvage purines - so increased elimination = incr uric acid production. Retardation - self - mutilation - aggression - hyperuricemia - gout






13. Cheilosis - corneal vascularization (the 2 C's)






14. Aut - rec absence of galactose -1- phosphate uridyltransferase; toxic substances accumulate (e.g. galactitol in lens of eye). FTT - jaundice - hepatomegaly - infantile cataracts - MR. Tx: no galactose / lactose (glucose + galactose).






15. Glucose -6- phosphatase deficiency (type I glycogen storage disease). Can't de - plate G6P (glycogenolysis & gluconeogenesis). Severe fasting hypoglycemia - inc. glycogen in liver - inc. blood lactate (gluconeogenesis impaired) - hepatomegaly.

Warning: Invalid argument supplied for foreach() in /var/www/html/basicversity.com/show_quiz.php on line 183


16. Aut - dom; disorder of blood vessels. Telangiectasia - recurrent epistaxis - skin discolorations - AVMs. Incr. in Utah Mormons






17. Peroxisomal disease; no alpha - oxidation of branched - chain FA like phytanic acid. Neuro sx; Tx = avoid chlorophyll






18. Type IV familial dyslipidemia. Hepatic overproduction of VLDL; VLDL increased; blood TGs elevated






19. Aut - dom. Facial lesions (adenoma sebaceum) - hypopigmented 'ash - leaf spots' on skin - cortical / retinal hamartomas - seizures - MR - renal cysts - renal angiomyolipomas - cardiac rhabdomyomas. Inc. incidence astrocytomas. Incomplete penetrance w






20. Trisomy 13 (P = puberty age) - 1:15 -000. Severe MR - rockerbottom feet - congenital heart disease. Vs. Edwards': cleft lip / Palate - holoProsencephaly - Polydactyly (P's) - micropthalmia - microcephaly. Death w/in 1 yr

Warning: Invalid argument supplied for foreach() in /var/www/html/basicversity.com/show_quiz.php on line 183


21. X- linked recessive. G6PD: G6P + NADP+ -> 6PG + NADPH; NADPH needed to reduce GSSG to 2GSH (glutathione reductase) for H2O2 to 2H2O conversion. Only pathway for making reduced GSH in RBC - so can't detoxify free radicals / peroxides (fava beans - sul






22. Type I familial dyslipidemia. Lipoprotein lipase deficiency or altered apolipoprotein C- II (LPL cofactor) = can't degrade TG circulating in chylomicrons - VLDLs. Increased chylomicrons - elevated cholesterol / TGs in blood






23. Facial flushing (niacin 'flushing' in pharm doses for hyperlipidemia treatment).






24. Aut - rec - defect in renal tubular AA transporter (cysteine - ornithine - lysine - arginine in renal PCT). inc. cystine (2 cysteines w/ disulfide bond) in urine --> cystine kidney stones (cystine staghorn calculi). Common (1:7000); Tx with acetazola






25. Night blindness - dry skin






26. Pyridoxine = B6. Convulsions - hyperirritability - peripheral neuropathy. Deficiency inducible by INH - oral contraceptives. Converted to pyridoxal phosphate: used in transamination (ALT - AST - etc) - decarboxylation - glycogen phosphorylase - heme






27. X- linked mutated dystrophin. Less severe than Duchenne's. Onset: adolescence - early adulthood.

Warning: Invalid argument supplied for foreach() in /var/www/html/basicversity.com/show_quiz.php on line 183


28. Aut - rec; can't convert orotic acid to UMP in de novo pyrimidine synthesis pathway (defect in orotic acid PRT or orotidine 5''- P- decarboxylase. Incr. orotic acid in urine - megaloblastic anemia (that doesn't get better with B12 / folate supplement






29. Lysosomal storage disease (a mucopolysaccharidosis). Aut - rec deficiency of alpha - L- iduronidase; heparan sulfate - dermatan sulfate accumulate. Developmental delay - gargoylism (thickened gingiva + upturned nose) - airway obstruction - corneal cl

Warning: Invalid argument supplied for foreach() in /var/www/html/basicversity.com/show_quiz.php on line 183


30. Adult polycystic kidney disease. Aut - dom - 90% from mutation in APKD1 - chr 16 (16 letters in 'polycystic kidney'). Always bilateral - big kidneys (lots of big cysts). Flank pain - hematuria - HTN - progressive renal failure. a/w polycystic liver d






31. Faulty collagen synthesis: hyperextensible skin - tendency to bleed (easy bruising) - hypermobile joints. Mostly type III collagen. 6 types - inheritance / severity vary (AD/AR). A/w joint dislocation - berry aneurysms - organ rupture






32. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of hexosaminidase A; GM2 ganglioside accumulates. Progressive neurodegeneration - developmental delay - cherry- red spot on macula - lysosomes with 'onion skin'






33. Peroxisomal disease; can't metabolize very long chain FA (VLCFAs) or branched - chain FAs (e.g. phytanic acid - via alpha - oxidation). Can't form myelin in CNS. Hypotonia - seizures - hepatomegaly - MR - early death.






34. Aut - dom; deletion of VHL gene (tumor suppressor) on chr 3 (3 words for chr 3). Results in constitutive expression of HIF (transcription factor) - activation of angiogenic growth factors. Hemangioblastomas of retina / cerebellum / medulla - 50% get






35. Age dep or hereditary lactose intolerance (blacks / Asians); lose brush - border enzyme. Bloating - cramps - osmotic diarrhea. Avoid dairy / use lactase pills.






36. Variable presentation - incl CATCH-22: Cleft palate - Abnormal facies - Thymic aplasia / T- cell deficiency - Cardiac defects - Hypocalcemia (2ary to parathyroid aplasia) - from microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th bra






37. Variable inheritance (locus heterogeneity); vs ocular albinism (x- linked recessive). Congenital deficiency of either 1) tyrosinase (can't make melanin from tyrosine; aut - rec); 2) defective tyrosine transporters (dec. tyrosine = dec. melanin); can






38. Aut - rec (CFTR gene - chr 7; CFTR channel secretes Cl - in lungs / GI - resorbes Cl - from sweat). Thick mucus - plugs lungs - pancreas - liver. Recurrent pulm infections (Pseudomonas - S aureus) - chronic bronchitis - bronchiectasis - pancreatic in






39. Bleeds (gamma - carboxylation of glutamic acid residues on factors II - VII - IX - X - protein C - S). Neonatal hemorrhage (inc PT - aPTT - normal bleeding time - sterile intestine in newborn - can't synthesize vitK - synthesized by intestinal flora






40. Lysosomal storage disease (a mucopolysaccharidosis). X- linked rec deficiency of iduronate sulfatase; heparan sulfate - dermatan sulfate accumulate. Mild Hurler's phenotype (developmental delay - gargoylism (thickened gingiva + upturned nose) - airwa

Warning: Invalid argument supplied for foreach() in /var/www/html/basicversity.com/show_quiz.php on line 183


41. Chr 15 - normally active maternal (AngelMan = maternal) allele deleted. MR - seizures ataxia - inappropriate laughter ('happy puppet'). Other parent's allele inactivated / imprinted by methylation; can also be from uniparental disomy (2 copies of chr

Warning: Invalid argument supplied for foreach() in /var/www/html/basicversity.com/show_quiz.php on line 183


42. Aut - dom; I/II/III - familial tumors of endocrine glands (pancreas - parathyroid - pituitary - thyroid - adrenal medulla). II / III a/w ret gene






43. Chr 15 - normally active parental (Prader = parental) allele deleted. MR - hyperphagia - obesity - hypogonadism - hypotonia. Other parent's allele inactivated / imprinted by methylation; can also be from uniparental disomy (2 copies of chr from 1 par






44. Microdeletion of short arm of chr 5: 46 -XX or XY - 5p -. Microcephaly - moderate/severe MR - high pitched crying/mewing (cry of the cat) - epicanthal folds - cardiac abnormalities






45. Protein malnutrition. Skin lesions - edema - liver malfunction (fatty change). Small child - swollen belly.






46. Delayed wound healing - hypogonadism - dec. adult hair (axillary / facial / pubic); ?predispose to alcoholic cirrhosis?






47. Aut - dom - Fibrillin defect (scaffolding for elastin formation - stretchy protein for lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava). Connective tissue disorder: skeleton - heart - eyes affected. Tall - long extremities

Warning: Invalid argument supplied for foreach() in /var/www/html/basicversity.com/show_quiz.php on line 183


48. Aut - rec deficiency in apoB-100 (binds LDL receptor; mediates VLDL secretion) and apoB-48 (mediates chylomicron secretion) - so can't synthesize lipoproteins. Sx appear in 1st months of life: FTT - steatorrhea - acanthocytosis (= RBC with spikes - '






49. Aut - dom; mutation of huntingtin (chr 4 - 'hunting 4 food') - CAG repeats. Depression - progressive dementia - choreiform movements - caudate atrophy; manifests 20-50 y/o. Dec GABA - ACh in brain.

Warning: Invalid argument supplied for foreach() in /var/www/html/basicversity.com/show_quiz.php on line 183


50. Aut - dom; mutation in APC gene (chr 5 - 'polyp' has 5 letters). Colon covered with adenomatous polyps after puberty. Progresses to colon cancer unless resected