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Test your basic knowledge |
Biochemistry Diseases
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Study First
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
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. Cheilosis - corneal vascularization (the 2 C's)
Vitamin B2 (riboflavin) deficiency
Fructose intolerance
McArdle's disease
Dry beriberi
2. 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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3. 'Bear liver'guy - arthralgias - fatigue - headaches - skin changes - sore throat - alopecia. Also teratogenic (cleft palate - cardiac abnormalities)
Patau's syndrome
Fragile X
Lesch - Nyhan Syndrome
Hypervitaminosis A
4. X- linked trinucleotide repeat disorder (CGG); affects methylation / expression of FMR1 gene - a/w chromosomal breakage. #2 cause of genetic MR (Down's is #1). Macro - orchidism - long face + large jaw - large everted ears - autism.
Williams syndrome
Fructosouria
Fragile X
Vitamin B5 deficiency
5. 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
Niemann - Pick disease
Vitamin B5 deficiency
Classic galactosemia
6. Type IIa familial dyslipidemia. Aut - dom absence / decrease in LDL receptors. LDLs increased - blood cholesterol elevated.
Familial hypercholesterolemia
Pyruvate dehydrogenase deficiency
Williams syndrome
Adenosine deaminase deficiency
7. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of arylsulfatase A - cerbroside sulfate accumulates. Central / peripheral demyelination - ataxia - dementia.
Metachromic leukodystrophy
McArdle's disease
Prader - Willi syndrome
Von Gierke's disease
8. 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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9. 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
Vitamin D deficiency
Vitamin D excess
Patau's syndrome
10. 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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11. Aut - dom - defect in spectrin or ankyrin. Hemolytic anemia - increased MCHC (mean corpuscular hemoglobin concentration). Splenectomy is curative
Huntington's disease
Familial hypercholesterolemia
Gaucher's disease
Hereditary spherocytosis
12. 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
Vitamin B6 deficiency
Ornithine transcarbamoylase (OTC) deficiency
Cori's disease
Hypophosphatemic rickets
13. 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
Becker's muscular dystrophy
Vitamin C (ascorbic acid) deficiency
Familial hypercholesterolemia
Pellagra
14. Pantothenate; in CoA. Dermatitis - enteritis - alopecia - adrenal insufficiency
Vitamin B5 deficiency
Pyruvate dehydrogenase deficiency
Down syndrome
Ehlers - Danlos syndrome
15. Hypercalcemia - hypercalciuria - loss of appetite - stupor. Seen in sarcoidosis (inc. activation of vitamin D by epithelioid macrophages).
Vitamin D excess
Osteogenesis imperfecta
Zinc deficiency
Hypertriglyceridemia
16. 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
Kwashiorkor
Tuberous sclerosis
Familial hypercholesterolemia
Multiple endocrine neoplasias
17. 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
Albinism
Pellagra
Vitamin B2 (riboflavin) deficiency
Classic galactosemia
18. 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
Tuberous sclerosis
Duchenne's muscular dystrophy
Folic acid deficiency
19. Aut - dom; defective / absent LDL receptor. Elevated LDL. Heterozygotes (1:500) have cholesterol = 300 mg/dL. Homozygotes (rare) chol > 700 mg /dL - severe atherosclerotic dz early in life - tendon xanthomas (classically Achilles); may have MI < 20 y
Arsenic toxicity
Edwards' syndrome
Familial hypercholesterolemia
Hereditary nonpolyposis colorectal cancer
20. Hemolytic anemia (inc fragility of erythrocytes - vit E is antioxidant - protects erythrocytes / membranes from free - radical damage). Muscle weakness - neurodysfunction tooo.
Vitamin B5 deficiency
Lactase deficiency
Familial adenomatous polyposis coli
Vitamin E deficiency
21. 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
Neurofibromatosis type II
Folic acid deficiency
Achondroplasia
Becker's muscular dystrophy
22. B1 (thiamine) deficiency. Polyneuritis - symmetrical muscle wasting
Refsum disease
Phenylketonuria
Dry beriberi
Hereditary nonpolyposis colorectal cancer
23. Microtubule polymerization defect (no lysosomal tracking). Decreased phagocytosis. Recurrent pyogenic infections - partial albinism - peripheral neuropathy.
McArdle's disease
Osteogenesis imperfecta
Niemann - Pick disease
Chediak - Higashi syndrome
24. Peroxisomal disease; no alpha - oxidation of branched - chain FA like phytanic acid. Neuro sx; Tx = avoid chlorophyll
Osteogenesis imperfecta
Abetalipoproteinemia
Refsum disease
Achondroplasia
25. 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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26. 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
Vitamin B3 excess
Down syndrome
Metachromic leukodystrophy
Maple syrup urine disease
27. 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
Zellweger syndrome
Vitamin B12 deficiency
Duchenne's muscular dystrophy
Cell disease
28. Aut - dom cell - signaling defect in fibroblast growth factor receptor 3 (FGFr3). Dwarfism: short limbs but head/trunk normal. A/W advanced paternal age
Dry beriberi
Achondroplasia
Vitamin B5 deficiency
Zinc deficiency
29. 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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30. Trisomy 21; MR - flat facies - epicanthal folds - simian crease - gap btwn 1-2nd toes - duodenal atresia - congenital heart dz (esp septum - primum - type ASD) - a/w inc risk All - Alz dz (>35 y/o). #1 cause congenital MR; #1 chr disorder (1:700). 95
Down syndrome
Hunter's syndrome
Vitamin B6 deficiency
Angelman's syndrome
31. 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
Velocardiofacial syndrome
Adenosine deaminase deficiency
G6PD deficiency
Zellweger syndrome
32. Converts adenosine to inosine in purine salvage pathway. Excess ATP - dATP in nucleotide pool = imbalance (feedback inhibition of ribonucleotide reductase - preventing DNA synthesis) - so decreased lymphocyte count (major cause of SCID - severe combi
Adenosine deaminase deficiency
Hyperchylomicronemia
Dry beriberi
Familial hypercholesterolemia
33. 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
Abetalipoproteinemia
Hypervitaminosis A
Adenosine deaminase deficiency
Cystinuria
34. 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
Hunter's syndrome
Hypertriglyceridemia
22q11 deletion syndromes
Xeroderma pigmentosum
35. Mitochondrial inheritance (only transmitted via mom); degeneration of retinal ganglion cells / axons; acute loss of central vision
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36. Aut - rec deficiency of aldolase B; fructose -1- P accumulates; dec. in phosphate = inhibition of glycogenolysis / gluconeogenesis. Hypoglycemia - jaundice - cirrhosis - vomiting. Tx: limit fructose - sucrose (gluc + fruc) intake.
Fructose intolerance
Maple syrup urine disease
Pompe's disease
DiGeorge syndrome
37. Age dep or hereditary lactose intolerance (blacks / Asians); lose brush - border enzyme. Bloating - cramps - osmotic diarrhea. Avoid dairy / use lactase pills.
Cori's disease
Tay- Sachs disease
Albinism
Lactase deficiency
38. 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
Pompe's disease
Pellagra
Ehlers - Danlos syndrome
Vitamin D excess
39. Facial flushing (niacin 'flushing' in pharm doses for hyperlipidemia treatment).
Kwashiorkor
Cori's disease
Vitamin B3 excess
Fragile X
40. Night blindness - dry skin
Gaucher's disease
Vitamin A deficiency
Hereditary spherocytosis
Krabbe's disease
41. 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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42. 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
Vitamin B6 deficiency
Familial adenomatous polyposis coli
Neurofibromatosis type II
Marfan's syndrome
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
Hereditary spherocytosis
Tuberous sclerosis
Prader - Willi syndrome
Williams syndrome
44. 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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45. 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
Vitamin A deficiency
Phenylketonuria
Ornithine transcarbamoylase (OTC) deficiency
Huntington's disease
46. Aut - dom; mutation of NF2 gene (chr 22: 'type 2 = 22'). Bilateral acoustic neuromas - juvenile cataracts.
Neurofibromatosis type II
Refsum disease
Gaucher's disease
Edwards' syndrome
47. 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
Wet beriberi
Krabbe's disease
Patau's syndrome
48. Glycogen debranching enzyme (alpha -1 -6 glucosidase) deficiency (type III glycogen storage disease). Like type I (Von Gierke's; glucose -6- phosphatase deficiency) but milder (gluconeogensis intact; normal blood lactate levels)
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49. A 22q11 deletion syndrome. Thymic - parathyroid - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Refsum disease
Homocystinuria
DiGeorge syndrome
Familial adenomatous polyposis coli
50. 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
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Hyperammonemia
Lactase deficiency
DiGeorge syndrome