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Test your basic knowledge |
Biochemistry Diseases
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Study First
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. 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
Vitamin K deficiency
Alport's syndrome
Hypertriglyceridemia
Kwashiorkor
2. 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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3. 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.
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4. 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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5. Inhibits lipoic acid (required for pyruvate dehydrogenase complex - pyruvate to acetyl - coA). Vomiting - rice water stools - garlic breath.
Huntington's disease
McArdle's disease
Arsenic toxicity
Dry beriberi
6. 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.
Zellweger syndrome
Marasmus
Patau's syndrome
Tay- Sachs disease
7. 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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8. B1 (thiamine) deficiency. Polyneuritis - symmetrical muscle wasting
Hunter's syndrome
Dry beriberi
Lactase deficiency
Fructose intolerance
9. 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
Zellweger syndrome
Williams syndrome
Cori's disease
Marasmus
10. 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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11. Cheilosis - corneal vascularization (the 2 C's)
Vitamin B2 (riboflavin) deficiency
von Hippel - Lindau disease
Cystic fibrosis
Metachromic leukodystrophy
12. Delayed wound healing - hypogonadism - dec. adult hair (axillary / facial / pubic); ?predispose to alcoholic cirrhosis?
Wet beriberi
Zinc deficiency
Vitamin K deficiency
Vitamin B6 deficiency
13. 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
Fructosouria
Gaucher's disease
Down syndrome
Ornithine transcarbamoylase (OTC) deficiency
14. Lysosomal storage disease (a sphingolipidosis). X- linked recessive (all other sphingolipidoses AR); deficiency of alpha - galactosidase A ceramide trihexoside accumulates. Peripheral neuropathy (hands / feet) - angiokeratomas - CV / renal disease
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15. X- linked dominant disorder (M/F offspring of affected mom can be affected; all female offspring of affected father diseased). Inc. phosphate wasting at proximal tubule; rickets - like presentation
Hypophosphatemic rickets
Albinism
Cystic fibrosis
Adenosine deaminase deficiency
16. Pantothenate; in CoA. Dermatitis - enteritis - alopecia - adrenal insufficiency
Achondroplasia
Vitamin B5 deficiency
Neurofibromatosis type II
von Hippel - Lindau disease
17. 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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18. Energy malnutrition. Tissue / muscle wasting - loss of subQ fat - variable edema.
Pyruvate dehydrogenase deficiency
Edwards' syndrome
Hereditary nonpolyposis colorectal cancer
Marasmus
19. 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).
Vitamin B3 excess
Kwashiorkor
Classic galactosemia
Hyperammonemia
20. Facial flushing (niacin 'flushing' in pharm doses for hyperlipidemia treatment).
Fructose intolerance
Vitamin B3 excess
Familial hypercholesterolemia
Dry beriberi
21. 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
Ehlers - Danlos syndrome
Familial hypercholesterolemia
Hereditary spherocytosis
Vitamin A deficiency
22. 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
APKD
Familial adenomatous polyposis coli
Kartagener's syndrome
Vitamin B6 deficiency
23. 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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24. 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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25. Protein malnutrition. Skin lesions - edema - liver malfunction (fatty change). Small child - swollen belly.
Vitamin A deficiency
Kwashiorkor
Hereditary nonpolyposis colorectal cancer
Niemann - Pick disease
26. 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
Arsenic toxicity
APKD
von Hippel - Lindau disease
Lactase deficiency
27. 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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28. Rare; from abx or excessive raw egg ingestion (avidin in whites binds biotin). Dermatitis - alopecia - enteritis. Biotin used in carboxylation enzymes.
Pellagra
Hunter's syndrome
Vitamin B5 deficiency
Biotin deficiency
29. 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
Adenosine deaminase deficiency
Prader - Willi syndrome
Ehlers - Danlos syndrome
Familial adenomatous polyposis coli
30. Microtubule polymerization defect (no lysosomal tracking). Decreased phagocytosis. Recurrent pyogenic infections - partial albinism - peripheral neuropathy.
Hunter's syndrome
Chediak - Higashi syndrome
Biotin deficiency
Fructose intolerance
31. Hemolytic anemia (inc fragility of erythrocytes - vit E is antioxidant - protects erythrocytes / membranes from free - radical damage). Muscle weakness - neurodysfunction tooo.
Neurofibromatosis type II
Vitamin E deficiency
Refsum disease
Vitamin B5 deficiency
32. Aut - dom; disorder of blood vessels. Telangiectasia - recurrent epistaxis - skin discolorations - AVMs. Incr. in Utah Mormons
Phenylketonuria
Xeroderma pigmentosum
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Hypophosphatemic rickets
33. 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
Xeroderma pigmentosum
APKD
G6PD deficiency
Hypervitaminosis A
34. Mutation in nucleotide excision repair proteins (endonucleases that release oligonucleotides containing damaged bases; DNApol + ligase fill in). Can't repair thymidine dimers (UV light). Dry skin with melanoma + other cancers ('children of the night'
Xeroderma pigmentosum
Zinc deficiency
Vitamin K deficiency
Galactokinase deficiency
35. X- linked mutated dystrophin. Less severe than Duchenne's. Onset: adolescence - early adulthood.
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36. 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
Duchenne's muscular dystrophy
Arsenic toxicity
Prader - Willi syndrome
Von Gierke's disease
37. Night blindness - dry skin
Vitamin A deficiency
Fragile X
Hypophosphatemic rickets
Zellweger syndrome
38. Aut - dom; mutation on long arm of chr 17 (17 letters in 'von recklinghausen') cafe - au - lait spots - neuronal tumors - Lisch nodules (pigmented iris hamartomas). Skeletal disorders (eg scoliosis) - optic pathway gliomas - pheochromocytoma - increa
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39. 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
Classic galactosemia
Vitamin K deficiency
Hyperammonemia
Vitamin B2 (riboflavin) deficiency
40. 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 - '
Orotic aciduria
Ornithine transcarbamoylase (OTC) deficiency
Abetalipoproteinemia
Pompe's disease
41. Type IV familial dyslipidemia. Hepatic overproduction of VLDL; VLDL increased; blood TGs elevated
Neurofibromatosis type II
Vitamin C (ascorbic acid) deficiency
Fructose intolerance
Hypertriglyceridemia
42. 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
Orotic aciduria
Fabry's disease
Vitamin D excess
Fragile X
43. Inclusion cell disease. Can't add mannose -6- P to lysosome proteins. Enzymes secreted outside of cell instead of targeted to lysosome. Lysosomal storage disorder. Coarse facial features - clouded corneas - restricted joint movement - high plasma lev
Arsenic toxicity
Hurler's syndrome
Cell disease
Kwashiorkor
44. A 22q11 deletion syndrome. Palate - facial - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Vitamin B2 (riboflavin) deficiency
Metachromic leukodystrophy
Classic galactosemia
Velocardiofacial syndrome
45. 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
Biotin deficiency
Marfan's syndrome
G6PD deficiency
Vitamin C (ascorbic acid) deficiency
46. A 22q11 deletion syndrome. Thymic - parathyroid - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
DiGeorge syndrome
Kwashiorkor
von Hippel - Lindau disease
Hurler's syndrome
47. Lysosomal alpha -1 -4- glucosidase (acid maltase) deficiency (type II glycogen storage disease. Lysosomal degradation of glycogen impaired (1 -4 = linkages - not branches). Cardiomegaly - systemic findings (liver - muscle) leading to early death. Pom
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48. Hypercalcemia - hypercalciuria - loss of appetite - stupor. Seen in sarcoidosis (inc. activation of vitamin D by epithelioid macrophages).
Multiple endocrine neoplasias
Vitamin D excess
Lesch - Nyhan Syndrome
Kartagener's syndrome
49. 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
Krabbe's disease
Cystic fibrosis
Neurofibromatosis type II
Zinc deficiency
50. 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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