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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. 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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2. 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
Classic galactosemia
Patau's syndrome
Cystic fibrosis
Folic acid deficiency
3. 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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4. 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
Alport's syndrome
Classic galactosemia
Xeroderma pigmentosum
Hyperchylomicronemia
5. X- linked mutated dystrophin. Less severe than Duchenne's. Onset: adolescence - early adulthood.
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6. 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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7. Hemolytic anemia (inc fragility of erythrocytes - vit E is antioxidant - protects erythrocytes / membranes from free - radical damage). Muscle weakness - neurodysfunction tooo.
Vitamin E deficiency
Angelman's syndrome
Cystic fibrosis
Albinism
8. 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
Niemann - Pick disease
Fabry's disease
Velocardiofacial syndrome
9. 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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10. 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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11. 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
Familial hypercholesterolemia
Williams syndrome
Biotin deficiency
Ornithine transcarbamoylase (OTC) deficiency
12. 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
Prader - Willi syndrome
Albinism
Tay- Sachs disease
Kwashiorkor
13. Inhibits lipoic acid (required for pyruvate dehydrogenase complex - pyruvate to acetyl - coA). Vomiting - rice water stools - garlic breath.
Multiple endocrine neoplasias
Alkaptonuria (ochronosis)
Arsenic toxicity
Pyruvate dehydrogenase deficiency
14. 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
Alport's syndrome
Chediak - Higashi syndrome
Phenylketonuria
Vitamin B12 deficiency
15. 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.
Galactokinase deficiency
Homocystinuria
Fragile X
Achondroplasia
16. 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
Krabbe's disease
Marfan's syndrome
17. 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
Osteogenesis imperfecta
Fabry's disease
Vitamin B2 (riboflavin) deficiency
Pellagra
18. 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
Dry beriberi
Hyperammonemia
Von Gierke's disease
Edwards' syndrome
19. Rare; from abx or excessive raw egg ingestion (avidin in whites binds biotin). Dermatitis - alopecia - enteritis. Biotin used in carboxylation enzymes.
Hypophosphatemic rickets
Biotin deficiency
Vitamin A deficiency
Vitamin D deficiency
20. Night blindness - dry skin
Vitamin A deficiency
Pompe's disease
Williams syndrome
Cori's disease
21. 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
Zellweger syndrome
Vitamin B6 deficiency
Orotic aciduria
Tuberous sclerosis
22. 'Bear liver'guy - arthralgias - fatigue - headaches - skin changes - sore throat - alopecia. Also teratogenic (cleft palate - cardiac abnormalities)
Homocystinuria
Familial hypercholesterolemia
Wet beriberi
Hypervitaminosis A
23. Aut - dom cell - signaling defect in fibroblast growth factor receptor 3 (FGFr3). Dwarfism: short limbs but head/trunk normal. A/W advanced paternal age
Vitamin C (ascorbic acid) deficiency
Vitamin B5 deficiency
Edwards' syndrome
Achondroplasia
24. 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
Chediak - Higashi syndrome
Metachromic leukodystrophy
Cri - du - chat syndrome
Albinism
25. 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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26. 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
Pellagra
Cystinuria
Ehlers - Danlos syndrome
Williams syndrome
27. Energy malnutrition. Tissue / muscle wasting - loss of subQ fat - variable edema.
Marasmus
von Hippel - Lindau disease
Vitamin A deficiency
Vitamin K deficiency
28. 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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29. 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
Hyperchylomicronemia
Chediak - Higashi syndrome
Tuberous sclerosis
Ornithine transcarbamoylase (OTC) deficiency
30. 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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31. 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.
McArdle's disease
Williams syndrome
Phenylketonuria
Alkaptonuria (ochronosis)
32. 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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33. Mitochondrial inheritance (only transmitted via mom); degeneration of retinal ganglion cells / axons; acute loss of central vision
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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. Microtubule polymerization defect (no lysosomal tracking). Decreased phagocytosis. Recurrent pyogenic infections - partial albinism - peripheral neuropathy.
Vitamin C (ascorbic acid) deficiency
Maple syrup urine disease
Hypertriglyceridemia
Chediak - Higashi syndrome
36. Type IIa familial dyslipidemia. Aut - dom absence / decrease in LDL receptors. LDLs increased - blood cholesterol elevated.
22q11 deletion syndromes
Cell disease
Familial hypercholesterolemia
Cri - du - chat syndrome
37. Rickets in children (bending bones); osteomalacia in adults (soft bones). Also hypocalcemic tetany.
Lesch - Nyhan Syndrome
Arsenic toxicity
Becker's muscular dystrophy
Vitamin D 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
Ehlers - Danlos syndrome
Gaucher's disease
Cri - du - chat syndrome
Phenylketonuria
39. Pyridoxine = B6. Convulsions - hyperirritability - peripheral neuropathy. Deficiency inducible by INH - oral contraceptives. Converted to pyridoxal phosphate: used in transamination (ALT - AST - etc) - decarboxylation - glycogen phosphorylase - heme
Vitamin B6 deficiency
von Hippel - Lindau disease
Kwashiorkor
Biotin deficiency
40. 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
Adenosine deaminase deficiency
Lesch - Nyhan Syndrome
Ehlers - Danlos syndrome
Pompe's disease
41. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of sphingomyelinase; sphingomyelin accumulates. Progressive neurodegeneration - hepatosplenomegaly - cherry- red spot on macula - foam cells.
Gaucher's disease
Alkaptonuria (ochronosis)
Williams syndrome
Niemann - Pick disease
42. 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
Homocystinuria
Kartagener's syndrome
Tay- Sachs disease
22q11 deletion syndromes
43. Delayed wound healing - hypogonadism - dec. adult hair (axillary / facial / pubic); ?predispose to alcoholic cirrhosis?
Hereditary spherocytosis
Fructose intolerance
Zinc deficiency
Kartagener's syndrome
44. 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
Duchenne's muscular dystrophy
DiGeorge syndrome
Cell disease
45. Aut - dom; mutation of NF2 gene (chr 22: 'type 2 = 22'). Bilateral acoustic neuromas - juvenile cataracts.
Maple syrup urine disease
Arsenic toxicity
Neurofibromatosis type II
APKD
46. 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
Classic galactosemia
Multiple endocrine neoplasias
Gaucher's disease
47. Mutation in mismatch repair genes (mismatched nucleotides in unmethylated / newly synthesized string recognized + removed)
Pompe's disease
Multiple endocrine neoplasias
Hereditary nonpolyposis colorectal cancer
Neurofibromatosis type I (von Recklinghausen's disease)
48. Facial flushing (niacin 'flushing' in pharm doses for hyperlipidemia treatment).
Familial hypercholesterolemia
Wet beriberi
Ornithine transcarbamoylase (OTC) deficiency
Vitamin B3 excess
49. 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
Prader - Willi syndrome
Tuberous sclerosis
Vitamin K deficiency
Maple syrup urine disease
50. 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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