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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
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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. Aut - dom; mutation of NF2 gene (chr 22: 'type 2 = 22'). Bilateral acoustic neuromas - juvenile cataracts.
Neurofibromatosis type II
Kartagener's syndrome
Orotic aciduria
Chediak - Higashi syndrome
2. Type IV familial dyslipidemia. Hepatic overproduction of VLDL; VLDL increased; blood TGs elevated
Marfan's syndrome
Cori's disease
Tuberous sclerosis
Hypertriglyceridemia
3. 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
Metachromic leukodystrophy
Vitamin K deficiency
Familial hypercholesterolemia
Albinism
4. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of arylsulfatase A - cerbroside sulfate accumulates. Central / peripheral demyelination - ataxia - dementia.
Velocardiofacial syndrome
Metachromic leukodystrophy
Adenosine deaminase deficiency
Phenylketonuria
5. 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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6. 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
G6PD deficiency
Adenosine deaminase deficiency
Pyruvate dehydrogenase deficiency
Edwards' syndrome
7. Aut - dom - defect in spectrin or ankyrin. Hemolytic anemia - increased MCHC (mean corpuscular hemoglobin concentration). Splenectomy is curative
Marfan's syndrome
Zellweger syndrome
Hereditary spherocytosis
Abetalipoproteinemia
8. 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.
22q11 deletion syndromes
Kartagener's syndrome
Cystinuria
Fragile X
9. Trisomy 18 (E=election age) - 1:8000. Severe MR - rockerbottom feet - congenital heart disease. Vs Patau's: micrognathia - low - set ears - clenched hands - prominent occiput. Death w/in 1 yr
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10. 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
Cystic fibrosis
Ornithine transcarbamoylase (OTC) deficiency
Achondroplasia
Hereditary nonpolyposis colorectal cancer
11. 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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12. 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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13. Energy malnutrition. Tissue / muscle wasting - loss of subQ fat - variable edema.
Marasmus
Maple syrup urine disease
Zinc deficiency
Vitamin B5 deficiency
14. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of hexosaminidase A; GM2 ganglioside accumulates. Progressive neurodegeneration - developmental delay - cherry- red spot on macula - lysosomes with 'onion skin'
Hunter's syndrome
Albinism
Homocystinuria
Tay- Sachs disease
15. 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
Pyruvate dehydrogenase deficiency
Refsum disease
Cystinuria
Abetalipoproteinemia
16. 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
Niemann - Pick disease
Down syndrome
Neurofibromatosis type I (von Recklinghausen's disease)
Vitamin B3 excess
17. Delayed wound healing - hypogonadism - dec. adult hair (axillary / facial / pubic); ?predispose to alcoholic cirrhosis?
Krabbe's disease
Hereditary nonpolyposis colorectal cancer
Neurofibromatosis type I (von Recklinghausen's disease)
Zinc deficiency
18. 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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19. 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
Phenylketonuria
Cystic fibrosis
Vitamin B3 excess
20. 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.
Hyperchylomicronemia
Marfan's syndrome
Alkaptonuria (ochronosis)
von Hippel - Lindau disease
21. Aut - dom; disorder of blood vessels. Telangiectasia - recurrent epistaxis - skin discolorations - AVMs. Incr. in Utah Mormons
Marfan's syndrome
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Ornithine transcarbamoylase (OTC) deficiency
Multiple endocrine neoplasias
22. 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
Familial hypercholesterolemia
Alkaptonuria (ochronosis)
Velocardiofacial syndrome
Ehlers - Danlos syndrome
23. 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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24. Aut - rec fructokinase deficiency. Can't P- late fructose - so can't enter cells. Benign - asymptomatic - just fructose in blood - urine.
Fructosouria
Hypertriglyceridemia
Cystic fibrosis
Vitamin D excess
25. 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
Refsum disease
Hyperchylomicronemia
Abetalipoproteinemia
Fructose intolerance
26. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of sphingomyelinase; sphingomyelin accumulates. Progressive neurodegeneration - hepatosplenomegaly - cherry- red spot on macula - foam cells.
Xeroderma pigmentosum
22q11 deletion syndromes
Niemann - Pick disease
Vitamin B12 deficiency
27. 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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28. (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!
Biotin deficiency
Pyruvate dehydrogenase deficiency
Hunter's syndrome
Familial hypercholesterolemia
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
Familial adenomatous polyposis coli
Neurofibromatosis type I (von Recklinghausen's disease)
Alkaptonuria (ochronosis)
Williams syndrome
30. 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
Phenylketonuria
G6PD deficiency
Williams syndrome
Vitamin E deficiency
31. 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.
Phenylketonuria
Vitamin B12 deficiency
Edwards' syndrome
Zinc deficiency
32. 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
Hyperchylomicronemia
Hurler's syndrome
Vitamin B5 deficiency
Cystic fibrosis
33. Microtubule polymerization defect (no lysosomal tracking). Decreased phagocytosis. Recurrent pyogenic infections - partial albinism - peripheral neuropathy.
Chediak - Higashi syndrome
Wet beriberi
Angelman's syndrome
Neurofibromatosis type I (von Recklinghausen's disease)
34. 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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35. 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
Pellagra
von Hippel - Lindau disease
Folic acid deficiency
Zellweger syndrome
36. 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
Folic acid deficiency
Vitamin B3 excess
Vitamin C (ascorbic acid) deficiency
Vitamin D excess
37. 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
Alkaptonuria (ochronosis)
Becker's muscular dystrophy
Vitamin D deficiency
Orotic aciduria
38. Protein malnutrition. Skin lesions - edema - liver malfunction (fatty change). Small child - swollen belly.
Vitamin D deficiency
Marfan's syndrome
Kwashiorkor
Cri - du - chat syndrome
39. 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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40. Rare; from abx or excessive raw egg ingestion (avidin in whites binds biotin). Dermatitis - alopecia - enteritis. Biotin used in carboxylation enzymes.
Vitamin C (ascorbic acid) deficiency
Hypophosphatemic rickets
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Biotin deficiency
41. A 22q11 deletion syndrome. Palate - facial - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Niemann - Pick disease
Velocardiofacial syndrome
DiGeorge syndrome
Cystinuria
42. 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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43. Aut - dom; I/II/III - familial tumors of endocrine glands (pancreas - parathyroid - pituitary - thyroid - adrenal medulla). II / III a/w ret gene
Hereditary nonpolyposis colorectal cancer
Multiple endocrine neoplasias
Vitamin D excess
Vitamin B5 deficiency
44. 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
Edwards' syndrome
Homocystinuria
Multiple endocrine neoplasias
Vitamin B6 deficiency
45. 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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46. 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
Hypophosphatemic rickets
Zellweger syndrome
Tuberous sclerosis
Vitamin B6 deficiency
47. 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
Hypophosphatemic rickets
Pellagra
Prader - Willi syndrome
Vitamin B2 (riboflavin) deficiency
48. 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.
Vitamin D deficiency
Fructose intolerance
Cori's disease
Hypophosphatemic rickets
49. 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
Prader - Willi syndrome
Vitamin B6 deficiency
Homocystinuria
Abetalipoproteinemia
50. 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
Kwashiorkor
Pellagra
Phenylketonuria
Dry beriberi