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. Protein malnutrition. Skin lesions - edema - liver malfunction (fatty change). Small child - swollen belly.
Krabbe's disease
Alkaptonuria (ochronosis)
Kwashiorkor
Hurler's syndrome


2. 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
Williams syndrome
Dry beriberi
Wet beriberi


3. 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
APKD
DiGeorge syndrome
McArdle's disease
Hereditary spherocytosis


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
Williams syndrome
Hereditary nonpolyposis colorectal cancer
Achondroplasia
Orotic aciduria


5. 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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6. Mutation in mismatch repair genes (mismatched nucleotides in unmethylated / newly synthesized string recognized + removed)
Hereditary nonpolyposis colorectal cancer
Neurofibromatosis type I (von Recklinghausen's disease)
Leber's hereditary optic neuropathy
Angelman's syndrome


7. 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
Pompe's disease
Hereditary nonpolyposis colorectal cancer


8. 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
Cell disease
Vitamin E deficiency
Tuberous sclerosis
Tay- Sachs disease


9. 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
Abetalipoproteinemia
Zellweger syndrome
Maple syrup urine disease
Neurofibromatosis type II


10. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of arylsulfatase A - cerbroside sulfate accumulates. Central / peripheral demyelination - ataxia - dementia.
Williams syndrome
Orotic aciduria
Metachromic leukodystrophy
Krabbe's disease


11. 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
Abetalipoproteinemia
Vitamin B2 (riboflavin) deficiency
Adenosine deaminase deficiency
Lesch - Nyhan Syndrome


12. 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 A deficiency
Fabry's disease
Abetalipoproteinemia
Alport's syndrome


13. Scurvy - swollen gums - bruising - anemia - poor wound healing. In fruits / vegetables. Facilitates Fe absorption: keeps Fe2+ reduced state - more absorbable. Also involved in hydroxylation of proline - lysine in collagen synthesis; antioxident; need
Cystic fibrosis
Pellagra
Vitamin K deficiency
Vitamin C (ascorbic acid) deficiency


14. 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.
Pompe's disease
Vitamin B12 deficiency
Dry beriberi
Fabry's disease


15. B1 (thiamine) deficiency. Polyneuritis - symmetrical muscle wasting
Neurofibromatosis type II
Marasmus
Dry beriberi
Niemann - Pick disease


16. Cheilosis - corneal vascularization (the 2 C's)
Vitamin B2 (riboflavin) deficiency
Patau's syndrome
Refsum disease
Williams syndrome


17. Rickets in children (bending bones); osteomalacia in adults (soft bones). Also hypocalcemic tetany.
Lactase deficiency
Vitamin D deficiency
Fructose intolerance
Maple syrup urine disease


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.
Duchenne's muscular dystrophy
Alport's syndrome
Zellweger syndrome
Huntington's disease


19. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of sphingomyelinase; sphingomyelin accumulates. Progressive neurodegeneration - hepatosplenomegaly - cherry- red spot on macula - foam cells.
Kartagener's syndrome
Pellagra
Niemann - Pick disease
Hypophosphatemic rickets


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
Pellagra
Phenylketonuria
Cystic fibrosis
Multiple endocrine neoplasias


21. 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 B5 deficiency
Cori's disease
Down syndrome
Ornithine transcarbamoylase (OTC) deficiency


22. Inhibits lipoic acid (required for pyruvate dehydrogenase complex - pyruvate to acetyl - coA). Vomiting - rice water stools - garlic breath.
Arsenic toxicity
Marfan's syndrome
Kwashiorkor
Abetalipoproteinemia


23. 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
Hereditary nonpolyposis colorectal cancer
Biotin deficiency
Hypophosphatemic rickets
Fabry's disease


24. 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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25. 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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26. Facial flushing (niacin 'flushing' in pharm doses for hyperlipidemia treatment).
Pompe's disease
Familial adenomatous polyposis coli
Vitamin B3 excess
Chediak - Higashi syndrome


27. (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 B6 deficiency
Hereditary spherocytosis
Pyruvate dehydrogenase deficiency
Xeroderma pigmentosum


28. 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
von Hippel - Lindau disease
Hypophosphatemic rickets
Vitamin E deficiency
Galactokinase deficiency


29. 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
Cri - du - chat syndrome
Vitamin B6 deficiency
Refsum disease
McArdle's disease


30. 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
Leber's hereditary optic neuropathy
Alkaptonuria (ochronosis)
Familial adenomatous polyposis coli
Velocardiofacial syndrome


31. 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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32. 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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33. 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
Vitamin E deficiency
Alport's syndrome
Ehlers - Danlos syndrome
Biotin deficiency


34. Hypercalcemia - hypercalciuria - loss of appetite - stupor. Seen in sarcoidosis (inc. activation of vitamin D by epithelioid macrophages).
Vitamin D excess
Kartagener's syndrome
Hypertriglyceridemia
Pyruvate dehydrogenase deficiency


35. 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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36. Peroxisomal disease; no alpha - oxidation of branched - chain FA like phytanic acid. Neuro sx; Tx = avoid chlorophyll
von Hippel - Lindau disease
Cri - du - chat syndrome
Achondroplasia
Refsum disease


37. 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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38. 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
Familial adenomatous polyposis coli
Zinc deficiency
Tuberous sclerosis
Metachromic leukodystrophy


39. 'Bear liver'guy - arthralgias - fatigue - headaches - skin changes - sore throat - alopecia. Also teratogenic (cleft palate - cardiac abnormalities)
Hypervitaminosis A
Patau's syndrome
Cori's disease
Velocardiofacial syndrome


40. A 22q11 deletion syndrome. Thymic - parathyroid - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Multiple endocrine neoplasias
Kartagener's syndrome
DiGeorge syndrome
Biotin deficiency


41. 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
Hyperchylomicronemia
Down syndrome
Familial hypercholesterolemia
Chediak - Higashi syndrome


42. Microtubule polymerization defect (no lysosomal tracking). Decreased phagocytosis. Recurrent pyogenic infections - partial albinism - peripheral neuropathy.
Dry beriberi
Fabry's disease
Angelman's syndrome
Chediak - Higashi syndrome


43. 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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44. 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
Albinism
Vitamin B2 (riboflavin) deficiency
Zinc deficiency
Familial hypercholesterolemia


45. 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
Edwards' syndrome
22q11 deletion syndromes
Leber's hereditary optic neuropathy
Arsenic toxicity


46. 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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47. 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
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Velocardiofacial syndrome
Pellagra
Vitamin E deficiency


48. 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'
Familial hypercholesterolemia
G6PD deficiency
McArdle's disease
Xeroderma pigmentosum


49. Hemolytic anemia (inc fragility of erythrocytes - vit E is antioxidant - protects erythrocytes / membranes from free - radical damage). Muscle weakness - neurodysfunction tooo.
Hyperchylomicronemia
Vitamin E deficiency
Von Gierke's disease
Marfan's syndrome


50. 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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