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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
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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. High output cardiac failure (dilated CM) - edema
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Wet beriberi
Folic acid deficiency
Hurler's syndrome
2. 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).
von Hippel - Lindau disease
Tuberous sclerosis
Classic galactosemia
Marasmus
3. 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
von Hippel - Lindau disease
G6PD deficiency
Familial hypercholesterolemia
Marasmus
4. Pantothenate; in CoA. Dermatitis - enteritis - alopecia - adrenal insufficiency
Leber's hereditary optic neuropathy
Abetalipoproteinemia
Vitamin B5 deficiency
Vitamin C (ascorbic acid) deficiency
5. 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
Pyruvate dehydrogenase deficiency
Familial adenomatous polyposis coli
Hereditary spherocytosis
G6PD deficiency
6. 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
Duchenne's muscular dystrophy
Angelman's syndrome
Lesch - Nyhan Syndrome
Achondroplasia
7. 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.
8. 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
Familial adenomatous polyposis coli
G6PD deficiency
Edwards' syndrome
9. Age dep or hereditary lactose intolerance (blacks / Asians); lose brush - border enzyme. Bloating - cramps - osmotic diarrhea. Avoid dairy / use lactase pills.
APKD
Pyruvate dehydrogenase deficiency
Lactase deficiency
Hyperammonemia
10. Delayed wound healing - hypogonadism - dec. adult hair (axillary / facial / pubic); ?predispose to alcoholic cirrhosis?
Familial hypercholesterolemia
Vitamin B12 deficiency
Familial hypercholesterolemia
Zinc deficiency
11. 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
Galactokinase deficiency
Hypophosphatemic rickets
Hyperchylomicronemia
Vitamin K deficiency
12. Cheilosis - corneal vascularization (the 2 C's)
Vitamin B2 (riboflavin) deficiency
Vitamin B6 deficiency
Tay- Sachs disease
Williams syndrome
13. Hypercalcemia - hypercalciuria - loss of appetite - stupor. Seen in sarcoidosis (inc. activation of vitamin D by epithelioid macrophages).
Metachromic leukodystrophy
Vitamin D excess
Alport's syndrome
Folic acid deficiency
14. A 22q11 deletion syndrome. Palate - facial - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Phenylketonuria
Velocardiofacial syndrome
Krabbe's disease
Dry beriberi
15. 'Bear liver'guy - arthralgias - fatigue - headaches - skin changes - sore throat - alopecia. Also teratogenic (cleft palate - cardiac abnormalities)
Abetalipoproteinemia
Orotic aciduria
Hypervitaminosis A
Biotin deficiency
16. Aut - dom; disorder of blood vessels. Telangiectasia - recurrent epistaxis - skin discolorations - AVMs. Incr. in Utah Mormons
Gaucher's disease
Leber's hereditary optic neuropathy
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
G6PD deficiency
17. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of arylsulfatase A - cerbroside sulfate accumulates. Central / peripheral demyelination - ataxia - dementia.
Pyruvate dehydrogenase deficiency
Zellweger syndrome
Metachromic leukodystrophy
Krabbe's disease
18. A 22q11 deletion syndrome. Thymic - parathyroid - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
DiGeorge syndrome
Cori's disease
Hypervitaminosis A
Vitamin B12 deficiency
19. 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.
Galactokinase deficiency
Hypervitaminosis A
Vitamin E deficiency
DiGeorge syndrome
20. 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
Hurler's syndrome
Familial hypercholesterolemia
Cell disease
Hyperammonemia
21. Protein malnutrition. Skin lesions - edema - liver malfunction (fatty change). Small child - swollen belly.
Abetalipoproteinemia
Vitamin C (ascorbic acid) deficiency
Kwashiorkor
Vitamin K deficiency
22. Aut - dom - defect in spectrin or ankyrin. Hemolytic anemia - increased MCHC (mean corpuscular hemoglobin concentration). Splenectomy is curative
Arsenic toxicity
Hereditary spherocytosis
Vitamin A deficiency
Cell disease
23. 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
24. B1 (thiamine) deficiency. Polyneuritis - symmetrical muscle wasting
Dry beriberi
Krabbe's disease
Tay- Sachs disease
Vitamin C (ascorbic acid) deficiency
25. 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
Hypertriglyceridemia
Patau's syndrome
Ehlers - Danlos syndrome
Cystinuria
26. 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
Ornithine transcarbamoylase (OTC) deficiency
Osteogenesis imperfecta
G6PD deficiency
von Hippel - Lindau disease
27. 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
28. 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)
29. 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
Cystic fibrosis
Kwashiorkor
von Hippel - Lindau disease
Arsenic toxicity
30. (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!
Lactase deficiency
Pyruvate dehydrogenase deficiency
Hypertriglyceridemia
Hyperchylomicronemia
31. 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.
Hurler's syndrome
Fructose intolerance
Kwashiorkor
Vitamin E deficiency
32. 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
33. 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
Familial hypercholesterolemia
Fructosouria
APKD
Osteogenesis imperfecta
34. 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'
Tay- Sachs disease
Hurler's syndrome
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Vitamin B6 deficiency
35. Microtubule polymerization defect (no lysosomal tracking). Decreased phagocytosis. Recurrent pyogenic infections - partial albinism - peripheral neuropathy.
Chediak - Higashi syndrome
Huntington's disease
Osteogenesis imperfecta
McArdle's disease
36. 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)
37. Aut - dom cell - signaling defect in fibroblast growth factor receptor 3 (FGFr3). Dwarfism: short limbs but head/trunk normal. A/W advanced paternal age
Hereditary spherocytosis
Achondroplasia
Lactase deficiency
Kartagener's syndrome
38. 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.
Zinc deficiency
Alkaptonuria (ochronosis)
Prader - Willi syndrome
Hyperammonemia
39. 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
Fructose intolerance
G6PD deficiency
Cri - du - chat syndrome
Cell disease
40. Type IIa familial dyslipidemia. Aut - dom absence / decrease in LDL receptors. LDLs increased - blood cholesterol elevated.
Alport's syndrome
Down syndrome
Familial hypercholesterolemia
Galactokinase deficiency
41. Rickets in children (bending bones); osteomalacia in adults (soft bones). Also hypocalcemic tetany.
Neurofibromatosis type II
Vitamin D deficiency
Lesch - Nyhan Syndrome
Maple syrup urine disease
42. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of galactocerebosidase; galactocerebroside accumulates. Peripheral neuropathy - developmental delay - optic atrophy - globoid cells (multinucleated).
43. 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
44. 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
45. 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.
Vitamin B12 deficiency
Refsum disease
Vitamin B5 deficiency
Maple syrup urine disease
46. Facial flushing (niacin 'flushing' in pharm doses for hyperlipidemia treatment).
Vitamin B2 (riboflavin) deficiency
Vitamin B3 excess
Hurler's syndrome
Xeroderma pigmentosum
47. 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 B12 deficiency
Hypophosphatemic rickets
Krabbe's disease
Kwashiorkor
48. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of sphingomyelinase; sphingomyelin accumulates. Progressive neurodegeneration - hepatosplenomegaly - cherry- red spot on macula - foam cells.
Leber's hereditary optic neuropathy
Hereditary nonpolyposis colorectal cancer
Pellagra
Niemann - Pick disease
49. 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 - '
Hypophosphatemic rickets
Vitamin E deficiency
Zellweger syndrome
Abetalipoproteinemia
50. Hemolytic anemia (inc fragility of erythrocytes - vit E is antioxidant - protects erythrocytes / membranes from free - radical damage). Muscle weakness - neurodysfunction tooo.
Classic galactosemia
Zinc deficiency
Velocardiofacial syndrome
Vitamin E deficiency