Instructions:

• Answer 50 questions in 15 minutes.
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• Match each statement with the correct term.
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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. 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
Cori's disease
Hereditary nonpolyposis colorectal cancer
Krabbe's disease
Down syndrome


2. Aut - dom; mutation of NF2 gene (chr 22: 'type 2 = 22'). Bilateral acoustic neuromas - juvenile cataracts.
Galactokinase deficiency
Gaucher's disease
Neurofibromatosis type II
Multiple endocrine neoplasias


3. Hemolytic anemia (inc fragility of erythrocytes - vit E is antioxidant - protects erythrocytes / membranes from free - radical damage). Muscle weakness - neurodysfunction tooo.
G6PD deficiency
Krabbe's disease
Prader - Willi syndrome
Vitamin E deficiency


4. Inhibits lipoic acid (required for pyruvate dehydrogenase complex - pyruvate to acetyl - coA). Vomiting - rice water stools - garlic breath.
Hereditary spherocytosis
Prader - Willi syndrome
Cystinuria
Arsenic toxicity


5. 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
Alkaptonuria (ochronosis)
Hunter's syndrome
Homocystinuria
Lesch - Nyhan Syndrome


6. 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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7. Facial flushing (niacin 'flushing' in pharm doses for hyperlipidemia treatment).
Velocardiofacial syndrome
Vitamin B3 excess
Pompe's disease
Marfan's syndrome


8. 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
Alkaptonuria (ochronosis)
Wet beriberi
Lesch - Nyhan Syndrome
Albinism


9. Energy malnutrition. Tissue / muscle wasting - loss of subQ fat - variable edema.
Orotic aciduria
Becker's muscular dystrophy
Hypertriglyceridemia
Marasmus


10. 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
Ehlers - Danlos syndrome
Fructose intolerance
Familial hypercholesterolemia
Ornithine transcarbamoylase (OTC) deficiency


11. High output cardiac failure (dilated CM) - edema
Gaucher's disease
Fructose intolerance
Edwards' syndrome
Wet beriberi


12. Protein malnutrition. Skin lesions - edema - liver malfunction (fatty change). Small child - swollen belly.
Zellweger syndrome
Kwashiorkor
Hurler's syndrome
Tuberous sclerosis


13. Aut - rec fructokinase deficiency. Can't P- late fructose - so can't enter cells. Benign - asymptomatic - just fructose in blood - urine.
Vitamin K deficiency
McArdle's disease
Fructosouria
22q11 deletion syndromes


14. Type IV familial dyslipidemia. Hepatic overproduction of VLDL; VLDL increased; blood TGs elevated
Hypertriglyceridemia
Marasmus
Hereditary nonpolyposis colorectal cancer
Orotic aciduria


15. 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'
Patau's syndrome
Angelman's syndrome
Hunter's syndrome
Xeroderma pigmentosum


16. Cheilosis - corneal vascularization (the 2 C's)
Vitamin D excess
Vitamin B2 (riboflavin) deficiency
Patau's syndrome
Von Gierke's disease


17. 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
Maple syrup urine disease
Down syndrome
Xeroderma pigmentosum
Cystic fibrosis


18. Delayed wound healing - hypogonadism - dec. adult hair (axillary / facial / pubic); ?predispose to alcoholic cirrhosis?
Fructosouria
Zinc deficiency
Hereditary spherocytosis
McArdle's disease


19. 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.
Biotin deficiency
Krabbe's disease
Cri - du - chat syndrome
Zellweger syndrome


20. Aut - dom cell - signaling defect in fibroblast growth factor receptor 3 (FGFr3). Dwarfism: short limbs but head/trunk normal. A/W advanced paternal age
McArdle's disease
Lactase deficiency
Achondroplasia
Vitamin B6 deficiency


21. 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
Zinc deficiency
Cystinuria
Chediak - Higashi syndrome
Wet beriberi


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

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23. 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
Xeroderma pigmentosum
Vitamin B5 deficiency
Familial hypercholesterolemia
Cystic fibrosis


24. 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
Hyperammonemia
Pompe's disease
DiGeorge syndrome


25. 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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26. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of sphingomyelinase; sphingomyelin accumulates. Progressive neurodegeneration - hepatosplenomegaly - cherry- red spot on macula - foam cells.
Niemann - Pick disease
Maple syrup urine disease
Cell disease
McArdle's disease


27. 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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28. 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).
Vitamin B6 deficiency
Arsenic toxicity
Classic galactosemia
Multiple endocrine neoplasias


29. 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
Vitamin D excess
Familial hypercholesterolemia
Prader - Willi syndrome
Vitamin C (ascorbic acid) deficiency


30. Type IIa familial dyslipidemia. Aut - dom absence / decrease in LDL receptors. LDLs increased - blood cholesterol elevated.
Galactokinase deficiency
Vitamin K deficiency
Tay- Sachs disease
Familial hypercholesterolemia


31. Peroxisomal disease; no alpha - oxidation of branched - chain FA like phytanic acid. Neuro sx; Tx = avoid chlorophyll
Zinc deficiency
Refsum disease
Hypophosphatemic rickets
Vitamin D excess


32. Rare; from abx or excessive raw egg ingestion (avidin in whites binds biotin). Dermatitis - alopecia - enteritis. Biotin used in carboxylation enzymes.
Hyperchylomicronemia
Zinc deficiency
Biotin deficiency
Becker's muscular dystrophy


33. 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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34. A 22q11 deletion syndrome. Palate - facial - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Vitamin K deficiency
Vitamin B3 excess
Velocardiofacial syndrome
Familial adenomatous polyposis coli


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. 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. Defects in type IV collagen synthesis; most common form X- linked recessive. Hereditary nephritis - deafness +/- ocular disturbances (type IV collagen important in BM of kidney - ears - eyes)

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38. Aut - dom; I/II/III - familial tumors of endocrine glands (pancreas - parathyroid - pituitary - thyroid - adrenal medulla). II / III a/w ret gene
Familial hypercholesterolemia
Patau's syndrome
Zinc deficiency
Multiple endocrine neoplasias


39. 'Bear liver'guy - arthralgias - fatigue - headaches - skin changes - sore throat - alopecia. Also teratogenic (cleft palate - cardiac abnormalities)
Neurofibromatosis type II
Williams syndrome
Vitamin D excess
Hypervitaminosis A


40. 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
Cri - du - chat syndrome
Hypophosphatemic rickets
Vitamin D excess
Marasmus


41. 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
Vitamin B3 excess
Alkaptonuria (ochronosis)
Duchenne's muscular dystrophy


42. 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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43. 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
DiGeorge syndrome
Vitamin E deficiency
Krabbe's disease


44. 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
Vitamin A deficiency
Prader - Willi syndrome
Fructose intolerance
Fragile X


45. 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
Vitamin D deficiency
Vitamin B12 deficiency
Vitamin K deficiency
Williams syndrome


46. Microtubule polymerization defect (no lysosomal tracking). Decreased phagocytosis. Recurrent pyogenic infections - partial albinism - peripheral neuropathy.
Alkaptonuria (ochronosis)
Hyperchylomicronemia
Vitamin B2 (riboflavin) deficiency
Chediak - Higashi syndrome


47. 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
Galactokinase deficiency
Cell disease
Pompe's disease
Duchenne's muscular dystrophy


48. Rickets in children (bending bones); osteomalacia in adults (soft bones). Also hypocalcemic tetany.
Vitamin D deficiency
von Hippel - Lindau disease
Zinc deficiency
Familial adenomatous polyposis coli


49. Hypercalcemia - hypercalciuria - loss of appetite - stupor. Seen in sarcoidosis (inc. activation of vitamin D by epithelioid macrophages).
Vitamin D excess
Edwards' syndrome
Classic galactosemia
Multiple endocrine neoplasias


50. 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.
Tuberous sclerosis
Fabry's disease
Zinc deficiency
Fructose intolerance