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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. X- linked mutated dystrophin. Less severe than Duchenne's. Onset: adolescence - early adulthood.
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2. High output cardiac failure (dilated CM) - edema
Wet beriberi
Neurofibromatosis type I (von Recklinghausen's disease)
Refsum disease
Vitamin K deficiency
3. 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
Adenosine deaminase deficiency
Vitamin D excess
Hyperammonemia
Zellweger syndrome
4. 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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5. 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
Homocystinuria
Hypophosphatemic rickets
Gaucher's disease
Zinc deficiency
6. Microtubule polymerization defect (no lysosomal tracking). Decreased phagocytosis. Recurrent pyogenic infections - partial albinism - peripheral neuropathy.
Refsum disease
Chediak - Higashi syndrome
Familial adenomatous polyposis coli
McArdle's disease
7. 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
Prader - Willi syndrome
Hyperammonemia
Patau's syndrome
8. 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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9. 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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10. 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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11. 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
Vitamin B2 (riboflavin) deficiency
Abetalipoproteinemia
Albinism
Vitamin C (ascorbic acid) deficiency
12. 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
Fructosouria
Familial adenomatous polyposis coli
Cystic fibrosis
Folic acid deficiency
13. 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).
Albinism
Hunter's syndrome
Classic galactosemia
Biotin deficiency
14. 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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15. 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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16. Pantothenate; in CoA. Dermatitis - enteritis - alopecia - adrenal insufficiency
22q11 deletion syndromes
Pompe's disease
Vitamin B5 deficiency
Edwards' syndrome
17. 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.
Alkaptonuria (ochronosis)
Patau's syndrome
Chediak - Higashi syndrome
Wet beriberi
18. 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
Ehlers - Danlos syndrome
Biotin deficiency
Kwashiorkor
19. 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
APKD
Hyperammonemia
Vitamin B6 deficiency
von Hippel - Lindau disease
20. 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
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Vitamin K deficiency
Hyperchylomicronemia
Huntington's disease
21. 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
Kwashiorkor
Fragile X
Down syndrome
22. 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
Vitamin C (ascorbic acid) deficiency
Vitamin A deficiency
APKD
DiGeorge syndrome
23. Aut - dom; disorder of blood vessels. Telangiectasia - recurrent epistaxis - skin discolorations - AVMs. Incr. in Utah Mormons
22q11 deletion syndromes
Adenosine deaminase deficiency
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Vitamin B6 deficiency
24. Night blindness - dry skin
APKD
Vitamin A deficiency
Huntington's disease
Zinc deficiency
25. 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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26. 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
Vitamin B3 excess
Albinism
Adenosine deaminase deficiency
Krabbe's disease
27. 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
Neurofibromatosis type II
Prader - Willi syndrome
Abetalipoproteinemia
Galactokinase deficiency
28. 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
Homocystinuria
Zinc deficiency
Hurler's syndrome
Phenylketonuria
29. 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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30. 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'
Velocardiofacial syndrome
Hereditary spherocytosis
Pyruvate dehydrogenase deficiency
Xeroderma pigmentosum
31. Aut - dom cell - signaling defect in fibroblast growth factor receptor 3 (FGFr3). Dwarfism: short limbs but head/trunk normal. A/W advanced paternal age
Classic galactosemia
Albinism
Familial hypercholesterolemia
Achondroplasia
32. Protein malnutrition. Skin lesions - edema - liver malfunction (fatty change). Small child - swollen belly.
Xeroderma pigmentosum
Kwashiorkor
Becker's muscular dystrophy
Multiple endocrine neoplasias
33. 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
Alport's syndrome
Hyperammonemia
Hereditary spherocytosis
Orotic aciduria
34. Aut - dom; mutation of NF2 gene (chr 22: 'type 2 = 22'). Bilateral acoustic neuromas - juvenile cataracts.
Hurler's syndrome
Dry beriberi
Maple syrup urine disease
Neurofibromatosis type II
35. 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
Lesch - Nyhan Syndrome
Cell disease
Arsenic toxicity
Kartagener's syndrome
36. 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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37. 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 - '
Adenosine deaminase deficiency
Cori's disease
Abetalipoproteinemia
Refsum disease
38. 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.
Huntington's disease
Zellweger syndrome
Hereditary spherocytosis
Tay- Sachs disease
39. 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
Vitamin B12 deficiency
Cystic fibrosis
Chediak - Higashi syndrome
Xeroderma pigmentosum
40. Inhibits lipoic acid (required for pyruvate dehydrogenase complex - pyruvate to acetyl - coA). Vomiting - rice water stools - garlic breath.
Vitamin B3 excess
Lactase deficiency
Kwashiorkor
Arsenic toxicity
41. Type IIa familial dyslipidemia. Aut - dom absence / decrease in LDL receptors. LDLs increased - blood cholesterol elevated.
Xeroderma pigmentosum
Familial hypercholesterolemia
Vitamin D deficiency
Dry beriberi
42. 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
Lesch - Nyhan Syndrome
Hurler's syndrome
Gaucher's disease
Neurofibromatosis type II
43. 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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44. Cheilosis - corneal vascularization (the 2 C's)
Vitamin B2 (riboflavin) deficiency
Lactase deficiency
Lesch - Nyhan Syndrome
Cell disease
45. 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
Marasmus
Fructosouria
Down syndrome
Vitamin B6 deficiency
46. Aut - dom - defect in spectrin or ankyrin. Hemolytic anemia - increased MCHC (mean corpuscular hemoglobin concentration). Splenectomy is curative
Down syndrome
Maple syrup urine disease
Cori's disease
Hereditary spherocytosis
47. 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
Wet beriberi
Pompe's disease
G6PD deficiency
Familial hypercholesterolemia
48. Energy malnutrition. Tissue / muscle wasting - loss of subQ fat - variable edema.
Marasmus
Zinc deficiency
Fragile X
Krabbe's disease
49. B1 (thiamine) deficiency. Polyneuritis - symmetrical muscle wasting
Lactase deficiency
Krabbe's disease
Dry beriberi
Vitamin A deficiency
50. 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
Abetalipoproteinemia
Hyperchylomicronemia
Vitamin B5 deficiency
Hypophosphatemic rickets