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. 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
Refsum disease
Familial hypercholesterolemia
Biotin deficiency
Vitamin K deficiency


2. 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
Neurofibromatosis type II
Kartagener's syndrome
Ehlers - Danlos syndrome
Cori's disease


3. 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

Warning: Invalid argument supplied for foreach() in /var/www/html/basicversity.com/show_quiz.php on line 183


4. 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.
Angelman's syndrome
Williams syndrome
Fructose intolerance
Alkaptonuria (ochronosis)


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
Hypertriglyceridemia
Duchenne's muscular dystrophy
Vitamin B5 deficiency
Hyperchylomicronemia


6. 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
Cri - du - chat syndrome
Cystinuria
Homocystinuria
Familial hypercholesterolemia


7. Type IV familial dyslipidemia. Hepatic overproduction of VLDL; VLDL increased; blood TGs elevated
Hypertriglyceridemia
Niemann - Pick disease
Down syndrome
Zinc deficiency


8. 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 - '
Vitamin D excess
Abetalipoproteinemia
Kwashiorkor
Zellweger 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

Warning: Invalid argument supplied for foreach() in /var/www/html/basicversity.com/show_quiz.php on line 183


10. Energy malnutrition. Tissue / muscle wasting - loss of subQ fat - variable edema.
Alport's syndrome
Velocardiofacial syndrome
Marasmus
Lactase deficiency


11. 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


12. 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
Tuberous sclerosis
Vitamin E deficiency
McArdle's disease
Vitamin D deficiency


13. Mutation in mismatch repair genes (mismatched nucleotides in unmethylated / newly synthesized string recognized + removed)
Down syndrome
Neurofibromatosis type II
Hereditary nonpolyposis colorectal cancer
Vitamin B12 deficiency


14. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of arylsulfatase A - cerbroside sulfate accumulates. Central / peripheral demyelination - ataxia - dementia.
Metachromic leukodystrophy
Vitamin D excess
Angelman's syndrome
Prader - Willi syndrome


15. 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
Tuberous sclerosis
Phenylketonuria
Orotic aciduria
Cell disease


16. 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


17. 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
Alport's syndrome
Alkaptonuria (ochronosis)
Kwashiorkor
APKD


18. 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.
Neurofibromatosis type II
Zellweger syndrome
Fragile X
Niemann - Pick disease


19. Pantothenate; in CoA. Dermatitis - enteritis - alopecia - adrenal insufficiency
Hurler's syndrome
Vitamin B5 deficiency
Gaucher's disease
Albinism


20. 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
Down syndrome
Von Gierke's disease
Velocardiofacial syndrome
Cystic fibrosis


21. Aut - dom; disorder of blood vessels. Telangiectasia - recurrent epistaxis - skin discolorations - AVMs. Incr. in Utah Mormons
Vitamin E deficiency
Vitamin B6 deficiency
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Hyperammonemia


22. Cheilosis - corneal vascularization (the 2 C's)
Pompe's disease
Von Gierke's disease
Vitamin B2 (riboflavin) deficiency
Orotic aciduria


23. Hemolytic anemia (inc fragility of erythrocytes - vit E is antioxidant - protects erythrocytes / membranes from free - radical damage). Muscle weakness - neurodysfunction tooo.
Lesch - Nyhan Syndrome
Hurler's syndrome
Maple syrup urine disease
Vitamin E deficiency


24. 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
McArdle's disease
Williams syndrome
Niemann - Pick disease
Vitamin D deficiency


25. 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
Pellagra
Vitamin B6 deficiency
Kwashiorkor
Adenosine deaminase deficiency


26. Rickets in children (bending bones); osteomalacia in adults (soft bones). Also hypocalcemic tetany.
Vitamin D deficiency
Angelman's syndrome
Vitamin B2 (riboflavin) deficiency
APKD


27. Facial flushing (niacin 'flushing' in pharm doses for hyperlipidemia treatment).
Folic acid deficiency
Williams syndrome
Hypertriglyceridemia
Vitamin B3 excess


28. 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


29. Delayed wound healing - hypogonadism - dec. adult hair (axillary / facial / pubic); ?predispose to alcoholic cirrhosis?
Dry beriberi
Zinc deficiency
Hurler's syndrome
Folic acid deficiency


30. 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
Neurofibromatosis type I (von Recklinghausen's disease)
Classic galactosemia
Albinism
Duchenne's muscular dystrophy


31. 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).
Gaucher's disease
Wet beriberi
Familial hypercholesterolemia
Classic galactosemia


32. 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
Phenylketonuria
Albinism
Hypophosphatemic rickets
Niemann - Pick disease


33. 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
Hyperammonemia
Cori's disease
Homocystinuria
Hypervitaminosis A


34. 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
Wet beriberi
Duchenne's muscular dystrophy
Orotic aciduria
Krabbe's disease


35. 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.

Warning: Invalid argument supplied for foreach() in /var/www/html/basicversity.com/show_quiz.php on line 183


36. 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
Vitamin E deficiency
von Hippel - Lindau disease
Kwashiorkor
Velocardiofacial syndrome


37. 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
Pyruvate dehydrogenase deficiency
Ornithine transcarbamoylase (OTC) deficiency
Prader - Willi syndrome
Vitamin B2 (riboflavin) deficiency


38. Immobile cilia (dynein arm defect). Infertility (M/F; sperm immotile) - bronchiectasis - recurrent sinusitis (not pushing out bacteria / particles). A/W situs inversus

Warning: Invalid argument supplied for foreach() in /var/www/html/basicversity.com/show_quiz.php on line 183


39. Aut - dom; I/II/III - familial tumors of endocrine glands (pancreas - parathyroid - pituitary - thyroid - adrenal medulla). II / III a/w ret gene
Multiple endocrine neoplasias
Osteogenesis imperfecta
Alkaptonuria (ochronosis)
Pompe's disease


40. 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
Gaucher's disease
Krabbe's disease
Pellagra
Familial hypercholesterolemia


41. Protein malnutrition. Skin lesions - edema - liver malfunction (fatty change). Small child - swollen belly.
Metachromic leukodystrophy
Hurler's syndrome
Kwashiorkor
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)


42. Hypercalcemia - hypercalciuria - loss of appetite - stupor. Seen in sarcoidosis (inc. activation of vitamin D by epithelioid macrophages).
Vitamin D excess
Achondroplasia
Huntington's disease
Kwashiorkor


43. Inhibits lipoic acid (required for pyruvate dehydrogenase complex - pyruvate to acetyl - coA). Vomiting - rice water stools - garlic breath.
Homocystinuria
Duchenne's muscular dystrophy
Arsenic toxicity
Kartagener's syndrome


44. 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
Phenylketonuria
Vitamin B3 excess
Marfan's syndrome
Neurofibromatosis type I (von Recklinghausen's disease)


45. A 22q11 deletion syndrome. Palate - facial - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Velocardiofacial syndrome
Hereditary spherocytosis
Galactokinase deficiency
G6PD deficiency


46. B1 (thiamine) deficiency. Polyneuritis - symmetrical muscle wasting
Vitamin K deficiency
Dry beriberi
Edwards' syndrome
Velocardiofacial syndrome


47. Night blindness - dry skin
22q11 deletion syndromes
Kartagener's syndrome
Vitamin A deficiency
Pompe's disease


48. 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
Zellweger syndrome
G6PD deficiency
Cystinuria
Biotin deficiency


49. Type IIa familial dyslipidemia. Aut - dom absence / decrease in LDL receptors. LDLs increased - blood cholesterol elevated.
Vitamin B2 (riboflavin) deficiency
Tay- Sachs disease
Huntington's disease
Familial hypercholesterolemia


50. 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
Lactase deficiency
22q11 deletion syndromes
Hypophosphatemic rickets
Vitamin B6 deficiency