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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
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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. 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
Velocardiofacial syndrome
Fructosouria
Abetalipoproteinemia
Pellagra
2. 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
Fructosouria
Prader - Willi syndrome
Metachromic leukodystrophy
Kartagener's syndrome
3. Microtubule polymerization defect (no lysosomal tracking). Decreased phagocytosis. Recurrent pyogenic infections - partial albinism - peripheral neuropathy.
DiGeorge syndrome
Chediak - Higashi syndrome
Alkaptonuria (ochronosis)
Multiple endocrine neoplasias
4. Energy malnutrition. Tissue / muscle wasting - loss of subQ fat - variable edema.
Vitamin B3 excess
Fabry's disease
Tay- Sachs disease
Marasmus
5. 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'
Vitamin D excess
Xeroderma pigmentosum
Achondroplasia
McArdle's disease
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. 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
Biotin deficiency
Leber's hereditary optic neuropathy
Hyperammonemia
Orotic aciduria
8. Peroxisomal disease; no alpha - oxidation of branched - chain FA like phytanic acid. Neuro sx; Tx = avoid chlorophyll
Fragile X
Xeroderma pigmentosum
Refsum disease
Hyperchylomicronemia
9. 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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10. High output cardiac failure (dilated CM) - edema
Wet beriberi
Arsenic toxicity
Galactokinase deficiency
Abetalipoproteinemia
11. Mutation in mismatch repair genes (mismatched nucleotides in unmethylated / newly synthesized string recognized + removed)
Huntington's disease
Hereditary nonpolyposis colorectal cancer
Multiple endocrine neoplasias
Biotin deficiency
12. Hypercalcemia - hypercalciuria - loss of appetite - stupor. Seen in sarcoidosis (inc. activation of vitamin D by epithelioid macrophages).
Alport's syndrome
Vitamin D excess
Folic acid deficiency
Achondroplasia
13. Rare; from abx or excessive raw egg ingestion (avidin in whites binds biotin). Dermatitis - alopecia - enteritis. Biotin used in carboxylation enzymes.
Zellweger syndrome
Biotin deficiency
Folic acid deficiency
Huntington's disease
14. 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.
Cystic fibrosis
Biotin deficiency
Familial hypercholesterolemia
Zellweger syndrome
15. Mitochondrial inheritance (only transmitted via mom); degeneration of retinal ganglion cells / axons; acute loss of central vision
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16. 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
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17. 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
Fructose intolerance
Neurofibromatosis type I (von Recklinghausen's disease)
Hyperammonemia
Metachromic leukodystrophy
18. 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.
Kwashiorkor
Classic galactosemia
Fructose intolerance
Cystic fibrosis
19. 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
Cori's disease
Tuberous sclerosis
Familial hypercholesterolemia
Lesch - Nyhan Syndrome
20. 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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21. Aut - dom cell - signaling defect in fibroblast growth factor receptor 3 (FGFr3). Dwarfism: short limbs but head/trunk normal. A/W advanced paternal age
Hypervitaminosis A
Cell disease
Achondroplasia
Niemann - Pick disease
22. 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 B2 (riboflavin) deficiency
Osteogenesis imperfecta
Down syndrome
Fragile X
23. 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
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Leber's hereditary optic neuropathy
Von Gierke's disease
Cystic fibrosis
24. Aut - dom; I/II/III - familial tumors of endocrine glands (pancreas - parathyroid - pituitary - thyroid - adrenal medulla). II / III a/w ret gene
Dry beriberi
Multiple endocrine neoplasias
Von Gierke's disease
Duchenne's muscular dystrophy
25. 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
Vitamin D excess
Huntington's disease
Niemann - Pick disease
Tuberous sclerosis
26. 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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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
Metachromic leukodystrophy
Cell disease
Hypertriglyceridemia
Abetalipoproteinemia
28. 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
Lesch - Nyhan Syndrome
Vitamin K deficiency
Neurofibromatosis type II
Alkaptonuria (ochronosis)
29. 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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30. 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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31. Hemolytic anemia (inc fragility of erythrocytes - vit E is antioxidant - protects erythrocytes / membranes from free - radical damage). Muscle weakness - neurodysfunction tooo.
Pompe's disease
Vitamin E deficiency
Hypervitaminosis A
Cell disease
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
Adenosine deaminase deficiency
Kartagener's syndrome
Hypophosphatemic rickets
Folic acid deficiency
33. 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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34. 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
Hereditary spherocytosis
Familial adenomatous polyposis coli
von Hippel - Lindau disease
Achondroplasia
35. Facial flushing (niacin 'flushing' in pharm doses for hyperlipidemia treatment).
Pompe's disease
Vitamin B3 excess
22q11 deletion syndromes
Vitamin B6 deficiency
36. Type IV familial dyslipidemia. Hepatic overproduction of VLDL; VLDL increased; blood TGs elevated
Galactokinase deficiency
Hypertriglyceridemia
Huntington's disease
Folic acid deficiency
37. 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.
Hyperammonemia
Albinism
Galactokinase deficiency
Gaucher's disease
38. 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
Fabry's disease
Velocardiofacial syndrome
Pompe's disease
39. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of arylsulfatase A - cerbroside sulfate accumulates. Central / peripheral demyelination - ataxia - dementia.
Zellweger syndrome
Hypertriglyceridemia
Metachromic leukodystrophy
Pellagra
40. Rickets in children (bending bones); osteomalacia in adults (soft bones). Also hypocalcemic tetany.
Vitamin B2 (riboflavin) deficiency
Ehlers - Danlos syndrome
Familial hypercholesterolemia
Vitamin D deficiency
41. 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
Zinc deficiency
Fragile X
Cell disease
42. Cheilosis - corneal vascularization (the 2 C's)
Kwashiorkor
Vitamin B2 (riboflavin) deficiency
Familial hypercholesterolemia
Classic galactosemia
43. 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
Neurofibromatosis type II
Hypophosphatemic rickets
Familial hypercholesterolemia
44. 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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45. 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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46. Age dep or hereditary lactose intolerance (blacks / Asians); lose brush - border enzyme. Bloating - cramps - osmotic diarrhea. Avoid dairy / use lactase pills.
Lactase deficiency
Marfan's syndrome
22q11 deletion syndromes
Fragile X
47. 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
Chediak - Higashi syndrome
Lesch - Nyhan Syndrome
Tay- Sachs disease
Ornithine transcarbamoylase (OTC) deficiency
48. 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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49. Aut - dom; mutation of NF2 gene (chr 22: 'type 2 = 22'). Bilateral acoustic neuromas - juvenile cataracts.
Cystic fibrosis
G6PD deficiency
Neurofibromatosis type II
Dry beriberi
50. 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
Homocystinuria
Hypertriglyceridemia
Maple syrup urine disease
Vitamin E deficiency