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. 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
McArdle's disease
Pellagra
Ehlers - Danlos syndrome
Krabbe's disease


2. 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
Pellagra
Lactase deficiency
Arsenic toxicity
22q11 deletion syndromes


3. Age dep or hereditary lactose intolerance (blacks / Asians); lose brush - border enzyme. Bloating - cramps - osmotic diarrhea. Avoid dairy / use lactase pills.
Dry beriberi
Lactase deficiency
Niemann - Pick disease
Angelman's syndrome


4. 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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5. 'Bear liver'guy - arthralgias - fatigue - headaches - skin changes - sore throat - alopecia. Also teratogenic (cleft palate - cardiac abnormalities)
Gaucher's disease
Fructose intolerance
Hypervitaminosis A
Albinism


6. 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
G6PD deficiency
Huntington's disease
Tuberous sclerosis
Patau's syndrome


7. 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
Metachromic leukodystrophy
Cystinuria
Dry beriberi


8. 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
Fructosouria
Prader - Willi syndrome
Homocystinuria
Gaucher's disease


9. Aut - dom - defect in spectrin or ankyrin. Hemolytic anemia - increased MCHC (mean corpuscular hemoglobin concentration). Splenectomy is curative
Vitamin C (ascorbic acid) deficiency
Arsenic toxicity
Hypophosphatemic rickets
Hereditary spherocytosis


10. 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
G6PD deficiency
Hyperammonemia
Down syndrome
Duchenne's muscular dystrophy


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

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12. 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
Fructosouria
Huntington's disease
Cri - du - chat syndrome
APKD


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


14. Aut - dom; I/II/III - familial tumors of endocrine glands (pancreas - parathyroid - pituitary - thyroid - adrenal medulla). II / III a/w ret gene
Kartagener's syndrome
Abetalipoproteinemia
Cystinuria
Multiple endocrine neoplasias


15. 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
Kartagener's syndrome
Albinism
Neurofibromatosis type I (von Recklinghausen's disease)
Hypophosphatemic rickets


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

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18. Aut - dom; disorder of blood vessels. Telangiectasia - recurrent epistaxis - skin discolorations - AVMs. Incr. in Utah Mormons
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Angelman's syndrome
Duchenne's muscular dystrophy
Adenosine deaminase deficiency


19. 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
Zellweger syndrome
Niemann - Pick disease
Adenosine deaminase deficiency
Vitamin B6 deficiency


20. Hypercalcemia - hypercalciuria - loss of appetite - stupor. Seen in sarcoidosis (inc. activation of vitamin D by epithelioid macrophages).
Pompe's disease
Orotic aciduria
Vitamin D excess
Dry beriberi


21. 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
Cystic fibrosis
Marfan's syndrome
Hypertriglyceridemia
Velocardiofacial syndrome


22. 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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23. Pantothenate; in CoA. Dermatitis - enteritis - alopecia - adrenal insufficiency
Maple syrup urine disease
Vitamin B5 deficiency
Zinc deficiency
Phenylketonuria


24. Hemolytic anemia (inc fragility of erythrocytes - vit E is antioxidant - protects erythrocytes / membranes from free - radical damage). Muscle weakness - neurodysfunction tooo.
APKD
Edwards' syndrome
Vitamin E deficiency
Marasmus


25. 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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26. Delayed wound healing - hypogonadism - dec. adult hair (axillary / facial / pubic); ?predispose to alcoholic cirrhosis?
Hunter's syndrome
Arsenic toxicity
Vitamin B6 deficiency
Zinc deficiency


27. 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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28. B1 (thiamine) deficiency. Polyneuritis - symmetrical muscle wasting
Pellagra
Lesch - Nyhan Syndrome
Vitamin B5 deficiency
Dry beriberi


29. 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.
Refsum disease
Dry beriberi
Vitamin B2 (riboflavin) deficiency
Zellweger syndrome


30. Night blindness - dry skin
Albinism
Dry beriberi
Vitamin A deficiency
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 C (ascorbic acid) deficiency
Becker's muscular dystrophy
Orotic aciduria
Vitamin B12 deficiency


32. 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'
von Hippel - Lindau disease
Xeroderma pigmentosum
Ornithine transcarbamoylase (OTC) deficiency
Alkaptonuria (ochronosis)


33. 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
Pellagra
Dry beriberi
Tay- Sachs disease
Familial hypercholesterolemia


34. 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
Hurler's syndrome
Neurofibromatosis type I (von Recklinghausen's disease)
Gaucher's disease
Lesch - Nyhan Syndrome


35. 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
Marfan's syndrome
Williams syndrome
Phenylketonuria
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)


36. 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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37. 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
Pompe's disease
von Hippel - Lindau disease
Pellagra
Angelman's syndrome


38. 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
Vitamin B6 deficiency
Williams syndrome


39. 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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40. 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
Achondroplasia
Fabry's disease
Maple syrup urine disease
Lactase deficiency


41. 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
Vitamin K deficiency
Marfan's syndrome
Homocystinuria
Vitamin D excess


42. 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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43. Type IIa familial dyslipidemia. Aut - dom absence / decrease in LDL receptors. LDLs increased - blood cholesterol elevated.
Vitamin B6 deficiency
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Familial hypercholesterolemia
Hyperammonemia


44. 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
Hereditary nonpolyposis colorectal cancer
Hyperammonemia
Vitamin B2 (riboflavin) deficiency
Wet beriberi


45. 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.
Familial hypercholesterolemia
Prader - Willi syndrome
Fragile X
Ehlers - Danlos syndrome


46. Protein malnutrition. Skin lesions - edema - liver malfunction (fatty change). Small child - swollen belly.
Familial hypercholesterolemia
Familial adenomatous polyposis coli
Kwashiorkor
22q11 deletion syndromes


47. 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.
Hyperchylomicronemia
Cystinuria
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Fructose intolerance


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!
Chediak - Higashi syndrome
Von Gierke's disease
Ehlers - Danlos syndrome
Pyruvate dehydrogenase deficiency


49. Aut - dom cell - signaling defect in fibroblast growth factor receptor 3 (FGFr3). Dwarfism: short limbs but head/trunk normal. A/W advanced paternal age
Lactase deficiency
Hereditary nonpolyposis colorectal cancer
Fructose intolerance
Achondroplasia


50. 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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