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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. Delayed wound healing - hypogonadism - dec. adult hair (axillary / facial / pubic); ?predispose to alcoholic cirrhosis?
Krabbe's disease
Von Gierke's disease
Zinc deficiency
Kwashiorkor
2. Night blindness - dry skin
Cystinuria
Vitamin A deficiency
DiGeorge syndrome
Multiple endocrine neoplasias
3. Pantothenate; in CoA. Dermatitis - enteritis - alopecia - adrenal insufficiency
Vitamin B5 deficiency
Pompe's disease
Vitamin B2 (riboflavin) deficiency
Maple syrup urine disease
4. Protein malnutrition. Skin lesions - edema - liver malfunction (fatty change). Small child - swollen belly.
McArdle's disease
Kwashiorkor
Prader - Willi syndrome
Becker's muscular dystrophy
5. 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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6. 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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7. Energy malnutrition. Tissue / muscle wasting - loss of subQ fat - variable edema.
Marasmus
Chediak - Higashi syndrome
Vitamin E deficiency
Hurler's syndrome
8. 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
Fragile X
Edwards' syndrome
Orotic aciduria
Folic acid deficiency
9. 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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10. Hypercalcemia - hypercalciuria - loss of appetite - stupor. Seen in sarcoidosis (inc. activation of vitamin D by epithelioid macrophages).
Williams syndrome
Ehlers - Danlos syndrome
Abetalipoproteinemia
Vitamin D excess
11. 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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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
Multiple endocrine neoplasias
Phenylketonuria
Lesch - Nyhan Syndrome
Hurler's syndrome
13. 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.
Hereditary nonpolyposis colorectal cancer
Cystinuria
Fructose intolerance
Fragile X
14. 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
Vitamin B5 deficiency
Vitamin D excess
Homocystinuria
Hyperchylomicronemia
15. 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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16. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of arylsulfatase A - cerbroside sulfate accumulates. Central / peripheral demyelination - ataxia - dementia.
Metachromic leukodystrophy
Pyruvate dehydrogenase deficiency
Chediak - Higashi syndrome
Hurler's syndrome
17. Inhibits lipoic acid (required for pyruvate dehydrogenase complex - pyruvate to acetyl - coA). Vomiting - rice water stools - garlic breath.
Fructose intolerance
DiGeorge syndrome
Homocystinuria
Arsenic toxicity
18. 'Bear liver'guy - arthralgias - fatigue - headaches - skin changes - sore throat - alopecia. Also teratogenic (cleft palate - cardiac abnormalities)
Hypervitaminosis A
Down syndrome
Leber's hereditary optic neuropathy
Hypophosphatemic rickets
19. 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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20. Aut - dom; disorder of blood vessels. Telangiectasia - recurrent epistaxis - skin discolorations - AVMs. Incr. in Utah Mormons
Prader - Willi syndrome
Homocystinuria
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Pyruvate dehydrogenase deficiency
21. 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
Cell disease
Dry beriberi
von Hippel - Lindau disease
Orotic aciduria
22. 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
Adenosine deaminase deficiency
Phenylketonuria
Cri - du - chat syndrome
McArdle's disease
23. 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
Vitamin B5 deficiency
Alport's syndrome
Down syndrome
Hunter's syndrome
24. Age dep or hereditary lactose intolerance (blacks / Asians); lose brush - border enzyme. Bloating - cramps - osmotic diarrhea. Avoid dairy / use lactase pills.
Hyperchylomicronemia
Vitamin K deficiency
Lactase deficiency
Vitamin B6 deficiency
25. 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
Maple syrup urine disease
Vitamin C (ascorbic acid) deficiency
McArdle's disease
Vitamin A deficiency
26. 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
Marasmus
Vitamin C (ascorbic acid) deficiency
Duchenne's muscular dystrophy
27. 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
Von Gierke's disease
Familial hypercholesterolemia
Angelman's syndrome
Hyperammonemia
28. Mutation in mismatch repair genes (mismatched nucleotides in unmethylated / newly synthesized string recognized + removed)
Cystic fibrosis
Hereditary nonpolyposis colorectal cancer
Patau's syndrome
Down syndrome
29. Type IV familial dyslipidemia. Hepatic overproduction of VLDL; VLDL increased; blood TGs elevated
Hypertriglyceridemia
Leber's hereditary optic neuropathy
Hyperammonemia
Hereditary nonpolyposis colorectal cancer
30. Aut - rec deficiency of phenylalanine hydroxylase / THB (cofactor) - so can't convert phenylalanine to tyrosine. Results: accumulate phenylalanine (excess phenylketones in urine); tyrosine becomes essential AA. Dx: MR - growth retardation - seizures
Lactase deficiency
Edwards' syndrome
Patau's syndrome
Phenylketonuria
31. 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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32. 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
Krabbe's disease
Velocardiofacial syndrome
Patau's syndrome
33. 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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34. 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.
Cori's disease
Zellweger syndrome
Krabbe's disease
Vitamin B3 excess
35. High output cardiac failure (dilated CM) - edema
Wet beriberi
Achondroplasia
Albinism
Vitamin B2 (riboflavin) deficiency
36. 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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37. Peroxisomal disease; no alpha - oxidation of branched - chain FA like phytanic acid. Neuro sx; Tx = avoid chlorophyll
Neurofibromatosis type I (von Recklinghausen's disease)
Refsum disease
Multiple endocrine neoplasias
Phenylketonuria
38. A 22q11 deletion syndrome. Thymic - parathyroid - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
DiGeorge syndrome
Maple syrup urine disease
Neurofibromatosis type I (von Recklinghausen's disease)
Vitamin E deficiency
39. Microtubule polymerization defect (no lysosomal tracking). Decreased phagocytosis. Recurrent pyogenic infections - partial albinism - peripheral neuropathy.
Chediak - Higashi syndrome
Metachromic leukodystrophy
Neurofibromatosis type II
Leber's hereditary optic neuropathy
40. 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
Gaucher's disease
Albinism
Fructosouria
Pompe's disease
41. 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
Hunter's syndrome
Orotic aciduria
Pompe's disease
Cell disease
42. 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
Familial hypercholesterolemia
Duchenne's muscular dystrophy
Familial adenomatous polyposis coli
Lactase deficiency
43. Mitochondrial inheritance (only transmitted via mom); degeneration of retinal ganglion cells / axons; acute loss of central vision
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44. 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
Tay- Sachs disease
Fragile X
Lesch - Nyhan Syndrome
G6PD deficiency
45. 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
Vitamin B6 deficiency
Osteogenesis imperfecta
Fragile X
von Hippel - Lindau disease
46. 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.
Chediak - Higashi syndrome
Vitamin C (ascorbic acid) deficiency
Alkaptonuria (ochronosis)
Ornithine transcarbamoylase (OTC) deficiency
47. 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
Familial hypercholesterolemia
Refsum disease
Tuberous sclerosis
Duchenne's muscular dystrophy
48. 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.
Homocystinuria
Cori's disease
Pyruvate dehydrogenase deficiency
Vitamin B12 deficiency
49. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of sphingomyelinase; sphingomyelin accumulates. Progressive neurodegeneration - hepatosplenomegaly - cherry- red spot on macula - foam cells.
Niemann - Pick disease
Classic galactosemia
Vitamin B5 deficiency
Adenosine deaminase deficiency
50. Defects in type IV collagen synthesis; most common form X- linked recessive. Hereditary nephritis - deafness +/- ocular disturbances (type IV collagen important in BM of kidney - ears - eyes)
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