SUBJECTS
|
BROWSE
|
CAREER CENTER
|
POPULAR
|
JOIN
|
LOGIN
Business Skills
|
Soft Skills
|
Basic Literacy
|
Certifications
About
|
Help
|
Privacy
|
Terms
|
Email
Search
Test your basic knowledge |
Biochemistry Diseases
Start Test
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. Rare; from abx or excessive raw egg ingestion (avidin in whites binds biotin). Dermatitis - alopecia - enteritis. Biotin used in carboxylation enzymes.
Alport's syndrome
von Hippel - Lindau disease
Vitamin A deficiency
Biotin deficiency
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
Alport's syndrome
Folic acid deficiency
McArdle's disease
Fabry's disease
3. Aut - dom; I/II/III - familial tumors of endocrine glands (pancreas - parathyroid - pituitary - thyroid - adrenal medulla). II / III a/w ret gene
Cystic fibrosis
Multiple endocrine neoplasias
Alport's syndrome
Dry beriberi
4. 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
Patau's syndrome
Tuberous sclerosis
Angelman's syndrome
McArdle's disease
5. Aut - dom; disorder of blood vessels. Telangiectasia - recurrent epistaxis - skin discolorations - AVMs. Incr. in Utah Mormons
Angelman's syndrome
Tuberous sclerosis
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
22q11 deletion syndromes
6. 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.
Fabry's disease
Hypertriglyceridemia
Vitamin B12 deficiency
APKD
7. 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
Warning
: Invalid argument supplied for foreach() in
/var/www/html/basicversity.com/show_quiz.php
on line
183
8. Energy malnutrition. Tissue / muscle wasting - loss of subQ fat - variable edema.
Pyruvate dehydrogenase deficiency
Neurofibromatosis type II
Marasmus
McArdle's disease
9. 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'
Tay- Sachs disease
Achondroplasia
Krabbe's disease
Xeroderma pigmentosum
10. 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
Warning
: Invalid argument supplied for foreach() in
/var/www/html/basicversity.com/show_quiz.php
on line
183
11. Facial flushing (niacin 'flushing' in pharm doses for hyperlipidemia treatment).
Vitamin K deficiency
Vitamin B3 excess
Wet beriberi
Neurofibromatosis type I (von Recklinghausen's disease)
12. Inhibits lipoic acid (required for pyruvate dehydrogenase complex - pyruvate to acetyl - coA). Vomiting - rice water stools - garlic breath.
Vitamin C (ascorbic acid) deficiency
Arsenic toxicity
Hereditary nonpolyposis colorectal cancer
22q11 deletion syndromes
13. Aut - dom; mutation of NF2 gene (chr 22: 'type 2 = 22'). Bilateral acoustic neuromas - juvenile cataracts.
Orotic aciduria
Alkaptonuria (ochronosis)
Familial hypercholesterolemia
Neurofibromatosis type II
14. 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
Warning
: Invalid argument supplied for foreach() in
/var/www/html/basicversity.com/show_quiz.php
on line
183
15. Type IV familial dyslipidemia. Hepatic overproduction of VLDL; VLDL increased; blood TGs elevated
Leber's hereditary optic neuropathy
Familial adenomatous polyposis coli
Fragile X
Hypertriglyceridemia
16. B1 (thiamine) deficiency. Polyneuritis - symmetrical muscle wasting
Hypertriglyceridemia
Zinc deficiency
Vitamin B12 deficiency
Dry beriberi
17. Mutation in mismatch repair genes (mismatched nucleotides in unmethylated / newly synthesized string recognized + removed)
Vitamin C (ascorbic acid) deficiency
Hereditary nonpolyposis colorectal cancer
Xeroderma pigmentosum
Zinc deficiency
18. 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
Warning
: Invalid argument supplied for foreach() in
/var/www/html/basicversity.com/show_quiz.php
on line
183
19. 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.
Fructose intolerance
Vitamin C (ascorbic acid) deficiency
Adenosine deaminase deficiency
Albinism
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
Familial hypercholesterolemia
Edwards' syndrome
Alkaptonuria (ochronosis)
Becker's muscular dystrophy
21. 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
22q11 deletion syndromes
Hypophosphatemic rickets
Vitamin K deficiency
Patau's syndrome
22. A 22q11 deletion syndrome. Thymic - parathyroid - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Alport's syndrome
DiGeorge syndrome
Vitamin B6 deficiency
Hurler's syndrome
23. 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)
Wet beriberi
DiGeorge syndrome
Familial hypercholesterolemia
24. 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
Warning
: Invalid argument supplied for foreach() in
/var/www/html/basicversity.com/show_quiz.php
on line
183
25. 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
Hunter's syndrome
Hypertriglyceridemia
Marasmus
Williams syndrome
26. Aut - rec fructokinase deficiency. Can't P- late fructose - so can't enter cells. Benign - asymptomatic - just fructose in blood - urine.
Fructosouria
Patau's syndrome
Duchenne's muscular dystrophy
Kartagener's syndrome
27. 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
Warning
: Invalid argument supplied for foreach() in
/var/www/html/basicversity.com/show_quiz.php
on line
183
28. 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
Vitamin B5 deficiency
von Hippel - Lindau disease
Marfan's syndrome
Hyperammonemia
29. 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.
Fragile X
Kwashiorkor
Gaucher's disease
Vitamin B2 (riboflavin) deficiency
30. 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)
Warning
: Invalid argument supplied for foreach() in
/var/www/html/basicversity.com/show_quiz.php
on line
183
31. Pantothenate; in CoA. Dermatitis - enteritis - alopecia - adrenal insufficiency
Leber's hereditary optic neuropathy
Vitamin B5 deficiency
Familial adenomatous polyposis coli
Vitamin B3 excess
32. 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
Hyperchylomicronemia
Fabry's disease
Achondroplasia
Osteogenesis imperfecta
33. 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
Cri - du - chat syndrome
Adenosine deaminase deficiency
Hypervitaminosis A
Cystinuria
34. 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
Vitamin D deficiency
Ornithine transcarbamoylase (OTC) deficiency
Familial hypercholesterolemia
Hereditary nonpolyposis colorectal cancer
35. A 22q11 deletion syndrome. Palate - facial - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Cystinuria
Marfan's syndrome
Ehlers - Danlos syndrome
Velocardiofacial syndrome
36. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of sphingomyelinase; sphingomyelin accumulates. Progressive neurodegeneration - hepatosplenomegaly - cherry- red spot on macula - foam cells.
Hyperammonemia
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Orotic aciduria
Niemann - Pick disease
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 - '
Abetalipoproteinemia
Gaucher's disease
von Hippel - Lindau disease
Kwashiorkor
38. Night blindness - dry skin
Leber's hereditary optic neuropathy
Vitamin E deficiency
Vitamin A deficiency
Zinc deficiency
39. 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.
Zellweger syndrome
Orotic aciduria
Hyperammonemia
Fragile X
40. 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
Orotic aciduria
Prader - Willi syndrome
Zinc deficiency
Becker's muscular dystrophy
41. 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
Chediak - Higashi syndrome
Ornithine transcarbamoylase (OTC) deficiency
Vitamin B6 deficiency
Hyperchylomicronemia
42. X- linked mutated dystrophin. Less severe than Duchenne's. Onset: adolescence - early adulthood.
Warning
: Invalid argument supplied for foreach() in
/var/www/html/basicversity.com/show_quiz.php
on line
183
43. Age dep or hereditary lactose intolerance (blacks / Asians); lose brush - border enzyme. Bloating - cramps - osmotic diarrhea. Avoid dairy / use lactase pills.
Fructose intolerance
Galactokinase deficiency
Lactase deficiency
Down syndrome
44. Protein malnutrition. Skin lesions - edema - liver malfunction (fatty change). Small child - swollen belly.
Phenylketonuria
Kwashiorkor
Multiple endocrine neoplasias
Vitamin B3 excess
45. 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
Angelman's syndrome
Marasmus
Homocystinuria
Neurofibromatosis type I (von Recklinghausen's disease)
46. 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
Pompe's disease
Marasmus
Adenosine deaminase deficiency
Edwards' syndrome
47. 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
Warning
: Invalid argument supplied for foreach() in
/var/www/html/basicversity.com/show_quiz.php
on line
183
48. (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!
Vitamin B3 excess
Pyruvate dehydrogenase deficiency
Refsum disease
Achondroplasia
49. 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
Pyruvate dehydrogenase deficiency
Osteogenesis imperfecta
Krabbe's disease
Phenylketonuria
50. Rickets in children (bending bones); osteomalacia in adults (soft bones). Also hypocalcemic tetany.
Vitamin D deficiency
Pellagra
Marasmus
Niemann - Pick disease