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Test your basic knowledge |
Biochemistry Diseases
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Subject
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health-sciences
Instructions:
Answer 50 questions in 15 minutes.
If you are not ready to take this test, you can
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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. 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
Cori's disease
Biotin deficiency
Cystinuria
Hyperchylomicronemia
2. 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
Vitamin A deficiency
Lesch - Nyhan Syndrome
Marasmus
Ehlers - Danlos syndrome
3. 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
Vitamin B6 deficiency
Homocystinuria
Ornithine transcarbamoylase (OTC) deficiency
Refsum disease
4. B1 (thiamine) deficiency. Polyneuritis - symmetrical muscle wasting
Lactase deficiency
APKD
Dry beriberi
Alport's syndrome
5. 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).
Metachromic leukodystrophy
Cori's disease
22q11 deletion syndromes
Classic galactosemia
6. Cobalamin = B12. macrocytic - megaloblastic anemia. Neuro sx: paresthesias - subacute combined degeneration from abnormal myelin. Prolonged deficiency = irreversible nervous system damage. Found in animal products; synthesized only by microorganisms.
Albinism
Maple syrup urine disease
Vitamin B12 deficiency
Neurofibromatosis type II
7. 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
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8. Type IV familial dyslipidemia. Hepatic overproduction of VLDL; VLDL increased; blood TGs elevated
Duchenne's muscular dystrophy
Pompe's disease
Familial hypercholesterolemia
Hypertriglyceridemia
9. 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
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10. 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
Cystinuria
Cystic fibrosis
Vitamin B12 deficiency
G6PD deficiency
11. Hypercalcemia - hypercalciuria - loss of appetite - stupor. Seen in sarcoidosis (inc. activation of vitamin D by epithelioid macrophages).
DiGeorge syndrome
Neurofibromatosis type II
Vitamin D excess
Hypervitaminosis A
12. 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
Ehlers - Danlos syndrome
G6PD deficiency
Orotic aciduria
Marasmus
13. Peroxisomal disease; no alpha - oxidation of branched - chain FA like phytanic acid. Neuro sx; Tx = avoid chlorophyll
Hereditary nonpolyposis colorectal cancer
Marfan's syndrome
Refsum disease
Kwashiorkor
14. 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
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15. Aut - dom; disorder of blood vessels. Telangiectasia - recurrent epistaxis - skin discolorations - AVMs. Incr. in Utah Mormons
DiGeorge syndrome
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Lactase deficiency
Hunter's syndrome
16. High output cardiac failure (dilated CM) - edema
Hereditary nonpolyposis colorectal cancer
Wet beriberi
Cri - du - chat syndrome
Arsenic toxicity
17. 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
Pellagra
Abetalipoproteinemia
Phenylketonuria
Homocystinuria
18. Scurvy - swollen gums - bruising - anemia - poor wound healing. In fruits / vegetables. Facilitates Fe absorption: keeps Fe2+ reduced state - more absorbable. Also involved in hydroxylation of proline - lysine in collagen synthesis; antioxident; need
Angelman's syndrome
Zellweger syndrome
Vitamin C (ascorbic acid) deficiency
Kartagener's syndrome
19. Type IIa familial dyslipidemia. Aut - dom absence / decrease in LDL receptors. LDLs increased - blood cholesterol elevated.
Tay- Sachs disease
Edwards' syndrome
Familial hypercholesterolemia
Refsum disease
20. A 22q11 deletion syndrome. Thymic - parathyroid - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Adenosine deaminase deficiency
Achondroplasia
Huntington's disease
DiGeorge syndrome
21. (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!
Pyruvate dehydrogenase deficiency
G6PD deficiency
Vitamin D excess
Marfan's syndrome
22. Immobile cilia (dynein arm defect). Infertility (M/F; sperm immotile) - bronchiectasis - recurrent sinusitis (not pushing out bacteria / particles). A/W situs inversus
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23. 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
Classic galactosemia
Vitamin C (ascorbic acid) deficiency
Ehlers - Danlos syndrome
Huntington's disease
24. Night blindness - dry skin
Vitamin K deficiency
Gaucher's disease
Vitamin A deficiency
Familial hypercholesterolemia
25. Age dep or hereditary lactose intolerance (blacks / Asians); lose brush - border enzyme. Bloating - cramps - osmotic diarrhea. Avoid dairy / use lactase pills.
Lactase deficiency
Alport's syndrome
Cri - du - chat syndrome
Vitamin B12 deficiency
26. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of arylsulfatase A - cerbroside sulfate accumulates. Central / peripheral demyelination - ataxia - dementia.
Vitamin B3 excess
McArdle's disease
Metachromic leukodystrophy
Patau's syndrome
27. Aut - rec galactokinase deficiency. Galactitol can accumulate if galactose present in diet; relatively mild. Galactose in blood / urine - infantile cataracts (may not track objects - develop social smile.
Galactokinase deficiency
Marasmus
Achondroplasia
Familial hypercholesterolemia
28. Pantothenate; in CoA. Dermatitis - enteritis - alopecia - adrenal insufficiency
Alkaptonuria (ochronosis)
Vitamin B5 deficiency
Hurler's syndrome
Tay- Sachs disease
29. Skeletal muscle glycogen phosphorylase deficiency (normally breaks down glycogen to 4- glucose residue branched 'limit dextrans'). Type V glycogen storage disease. Incr. glycogen in mm - but can't break down (mm cramps - myoglobinuria with strenuous
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30. 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
Osteogenesis imperfecta
Neurofibromatosis type I (von Recklinghausen's disease)
Cystic fibrosis
Vitamin A deficiency
31. Mitochondrial inheritance (only transmitted via mom); degeneration of retinal ganglion cells / axons; acute loss of central vision
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32. Rare; from abx or excessive raw egg ingestion (avidin in whites binds biotin). Dermatitis - alopecia - enteritis. Biotin used in carboxylation enzymes.
Hunter's syndrome
Edwards' syndrome
Biotin deficiency
Prader - Willi syndrome
33. A 22q11 deletion syndrome. Palate - facial - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Hyperchylomicronemia
Kartagener's syndrome
Abetalipoproteinemia
Velocardiofacial syndrome
34. X- linked frame - shift mutation: deletion of dystrophin (DMD anchors mm fibers - esp. skeletal / cardiac. Longest gene: lots of spontaneous mutations). Accel. mm breakdown (weakness in pelvic girdle -> superiorly). Pseudohypertrophy of calf mm (fibr
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35. Dec alpha - ketoacid dehydrogenase activity = blocked degradation of branched amino acid (Ile - Leu - Val = I Love Vermont; maple trees w/ branches). Increased alpha - ketoacids in blood (esp Leu). Severe CNS defects - MR - death. Urine smells like m
Hereditary nonpolyposis colorectal cancer
Maple syrup urine disease
Adenosine deaminase deficiency
Multiple endocrine neoplasias
36. 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
22q11 deletion syndromes
von Hippel - Lindau disease
Albinism
Vitamin B5 deficiency
37. 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
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38. Aut - rec deficiency of homogentisic acid oxidase (degradative pathway of tyrosine) - benign disease. Dark connective tissue - pigmented sclera - urine turnes black on standing - may have debilitating arthralgias.
Fructosouria
Vitamin D deficiency
Alkaptonuria (ochronosis)
Krabbe's disease
39. 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
APKD
Refsum disease
Familial hypercholesterolemia
G6PD deficiency
40. 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.
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41. Acquired (e.g. liver dz) or hereditary (urea cycle enzyme deficiencies). inc. NH4 depletes alpha - keotglutarate - inhibiting TCA cycle. Ammonia intox - tremor - slurred speech - somnolence - vomiting - cerebral edema - blurred vision. Tx with benzoa
Hyperammonemia
Hereditary nonpolyposis colorectal cancer
Kartagener's syndrome
Abetalipoproteinemia
42. Macrocytic - megaloblastic anemia w/o neuro sx. #1 vitamin deficiency in USA; see in alcoholism / pregnancy (neural tube defects; supplement in early pregnancy) - also drugs (phenytoin - sulfas - MTX). From FOLiage (leafy greens) with small reserve p
Metachromic leukodystrophy
Folic acid deficiency
Multiple endocrine neoplasias
Hurler's syndrome
43. Brittle bone disease; genetic bone disorder. Variety of gene defects. Type II fatal in utero - neonatal. Most common form: AD with abnormal type I collagen (bone): multiple fractures w/ minimal trauma (e.g. during birth) - blue sclerae (translucent c
Velocardiofacial syndrome
Huntington's disease
Osteogenesis imperfecta
Vitamin B6 deficiency
44. 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
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45. Microdeletion of long arm of chr 7 (incl. elastin gene). 'Elfin' faces - MR but good verbal skills - cheerful disposition - extreme friendliness w/ strangers - CV problems
Vitamin K deficiency
Williams syndrome
Dry beriberi
Duchenne's muscular dystrophy
46. 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
Zellweger syndrome
Vitamin C (ascorbic acid) deficiency
22q11 deletion syndromes
Williams syndrome
47. 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
Refsum disease
Vitamin C (ascorbic acid) deficiency
Cell disease
Vitamin B6 deficiency
48. Aut - dom - defect in spectrin or ankyrin. Hemolytic anemia - increased MCHC (mean corpuscular hemoglobin concentration). Splenectomy is curative
Hereditary spherocytosis
Kartagener's syndrome
Vitamin B2 (riboflavin) deficiency
Cori's disease
49. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of galactocerebosidase; galactocerebroside accumulates. Peripheral neuropathy - developmental delay - optic atrophy - globoid cells (multinucleated).
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50. Energy malnutrition. Tissue / muscle wasting - loss of subQ fat - variable edema.
Leber's hereditary optic neuropathy
Marasmus
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Fabry's disease