Instructions:

• Answer 50 questions in 15 minutes.
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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. A 22q11 deletion syndrome. Palate - facial - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Williams syndrome
Vitamin B2 (riboflavin) deficiency
Velocardiofacial syndrome
Vitamin D deficiency


2. 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
Xeroderma pigmentosum
Prader - Willi syndrome
Neurofibromatosis type I (von Recklinghausen's disease)
Vitamin K deficiency


3. 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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4. 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
Classic galactosemia
Dry beriberi
Familial hypercholesterolemia
Williams syndrome


5. 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
Pompe's disease
Hyperammonemia
Hyperchylomicronemia
Fragile X


6. Protein malnutrition. Skin lesions - edema - liver malfunction (fatty change). Small child - swollen belly.
Hereditary spherocytosis
Kwashiorkor
Maple syrup urine disease
Lesch - Nyhan Syndrome


7. 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
Refsum disease
Vitamin A deficiency
Pellagra
DiGeorge syndrome


8. 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
Down syndrome
Williams syndrome
Hypervitaminosis A
Refsum disease


9. 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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10. 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
Biotin deficiency
Hereditary nonpolyposis colorectal cancer
Pellagra


11. 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
Orotic aciduria
Pellagra
Arsenic toxicity
Duchenne's muscular dystrophy


12. 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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13. 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
Vitamin B12 deficiency
Dry beriberi
Arsenic toxicity


14. Aut - dom; mutation of NF2 gene (chr 22: 'type 2 = 22'). Bilateral acoustic neuromas - juvenile cataracts.
Neurofibromatosis type II
Cori's disease
Von Gierke's disease
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)


15. 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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16. 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
Albinism
Hyperammonemia
Refsum disease
Folic acid deficiency


17. B1 (thiamine) deficiency. Polyneuritis - symmetrical muscle wasting
Wet beriberi
Osteogenesis imperfecta
Dry beriberi
Fructosouria


18. Aut - dom; mutation of huntingtin (chr 4 - 'hunting 4 food') - CAG repeats. Depression - progressive dementia - choreiform movements - caudate atrophy; manifests 20-50 y/o. Dec GABA - ACh in brain.

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19. 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
Von Gierke's disease
Lesch - Nyhan Syndrome
Phenylketonuria
Pyruvate dehydrogenase deficiency


20. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of sphingomyelinase; sphingomyelin accumulates. Progressive neurodegeneration - hepatosplenomegaly - cherry- red spot on macula - foam cells.
Vitamin B2 (riboflavin) deficiency
Prader - Willi syndrome
Pyruvate dehydrogenase deficiency
Niemann - Pick disease


21. 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
Galactokinase deficiency
Lesch - Nyhan Syndrome
McArdle's disease


22. Peroxisomal disease; no alpha - oxidation of branched - chain FA like phytanic acid. Neuro sx; Tx = avoid chlorophyll
Fructose intolerance
Hyperammonemia
Williams syndrome
Refsum disease


23. 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
Pompe's disease
Cystinuria
Xeroderma pigmentosum
Vitamin E deficiency


24. 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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25. Hemolytic anemia (inc fragility of erythrocytes - vit E is antioxidant - protects erythrocytes / membranes from free - radical damage). Muscle weakness - neurodysfunction tooo.
Osteogenesis imperfecta
Hypertriglyceridemia
22q11 deletion syndromes
Vitamin E deficiency


26. Delayed wound healing - hypogonadism - dec. adult hair (axillary / facial / pubic); ?predispose to alcoholic cirrhosis?
Vitamin B3 excess
Zinc deficiency
Alkaptonuria (ochronosis)
APKD


27. Mutation in mismatch repair genes (mismatched nucleotides in unmethylated / newly synthesized string recognized + removed)
Tay- Sachs disease
Leber's hereditary optic neuropathy
Abetalipoproteinemia
Hereditary nonpolyposis colorectal cancer


28. Hypercalcemia - hypercalciuria - loss of appetite - stupor. Seen in sarcoidosis (inc. activation of vitamin D by epithelioid macrophages).
Patau's syndrome
Lactase deficiency
Vitamin D excess
Vitamin B3 excess


29. 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 C (ascorbic acid) deficiency
Galactokinase deficiency
Hyperammonemia
Zellweger syndrome


30. Night blindness - dry skin
Velocardiofacial syndrome
Vitamin A deficiency
Cystic fibrosis
Hypophosphatemic rickets


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.
Vitamin B6 deficiency
Homocystinuria
Vitamin B12 deficiency
Fructosouria


32. Cheilosis - corneal vascularization (the 2 C's)
Vitamin B2 (riboflavin) deficiency
Lactase deficiency
Kwashiorkor
Tay- Sachs disease


33. 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.
Phenylketonuria
Tay- Sachs disease
Vitamin B12 deficiency
Fructose intolerance


34. 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
Abetalipoproteinemia
Lesch - Nyhan Syndrome
Albinism
Velocardiofacial syndrome


35. 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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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)

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37. Aut - rec fructokinase deficiency. Can't P- late fructose - so can't enter cells. Benign - asymptomatic - just fructose in blood - urine.
Pompe's disease
Alport's syndrome
Fructosouria
Hypervitaminosis A


38. Mitochondrial inheritance (only transmitted via mom); degeneration of retinal ganglion cells / axons; acute loss of central vision

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39. 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
22q11 deletion syndromes
Xeroderma pigmentosum
Leber's hereditary optic neuropathy
Hereditary spherocytosis


40. 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

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41. 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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42. 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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43. 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
Hypertriglyceridemia
Classic galactosemia
Familial adenomatous polyposis coli
Cell disease


44. Rickets in children (bending bones); osteomalacia in adults (soft bones). Also hypocalcemic tetany.
Familial hypercholesterolemia
Chediak - Higashi syndrome
Familial adenomatous polyposis coli
Vitamin D deficiency


45. 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
Hyperammonemia
Vitamin K deficiency
Fabry's disease
APKD


46. 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
Hypertriglyceridemia
Vitamin D deficiency
Hereditary nonpolyposis colorectal cancer
G6PD deficiency


47. 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
Hypervitaminosis A
Cystic fibrosis
Marasmus
Vitamin D deficiency


48. 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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49. 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
Vitamin D excess
Marasmus
Hereditary spherocytosis


50. X- linked mutated dystrophin. Less severe than Duchenne's. Onset: adolescence - early adulthood.

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