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. Type IIa familial dyslipidemia. Aut - dom absence / decrease in LDL receptors. LDLs increased - blood cholesterol elevated.
Vitamin D deficiency
Albinism
Familial hypercholesterolemia
Lesch - Nyhan Syndrome


2. (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!
Pyruvate dehydrogenase deficiency
Hereditary nonpolyposis colorectal cancer
Vitamin B6 deficiency
Fabry's disease


3. Mutation in mismatch repair genes (mismatched nucleotides in unmethylated / newly synthesized string recognized + removed)
Ornithine transcarbamoylase (OTC) deficiency
Hereditary nonpolyposis colorectal cancer
Vitamin A deficiency
DiGeorge syndrome


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


6. 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
Hyperammonemia
Marfan's syndrome
Williams syndrome
Kartagener's syndrome


7. Microtubule polymerization defect (no lysosomal tracking). Decreased phagocytosis. Recurrent pyogenic infections - partial albinism - peripheral neuropathy.
Cori's disease
Lesch - Nyhan Syndrome
Chediak - Higashi syndrome
Gaucher's disease


8. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of arylsulfatase A - cerbroside sulfate accumulates. Central / peripheral demyelination - ataxia - dementia.
Achondroplasia
Zellweger syndrome
Metachromic leukodystrophy
Xeroderma pigmentosum


9. Microdeletion of short arm of chr 5: 46 -XX or XY - 5p -. Microcephaly - moderate/severe MR - high pitched crying/mewing (cry of the cat) - epicanthal folds - cardiac abnormalities
Tay- Sachs disease
Lactase deficiency
Down syndrome
Cri - du - chat syndrome


10. 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
Vitamin B6 deficiency
22q11 deletion syndromes
Duchenne's muscular dystrophy
Hypophosphatemic rickets


11. B1 (thiamine) deficiency. Polyneuritis - symmetrical muscle wasting
Angelman's syndrome
Vitamin B5 deficiency
Kwashiorkor
Dry beriberi


12. Inhibits lipoic acid (required for pyruvate dehydrogenase complex - pyruvate to acetyl - coA). Vomiting - rice water stools - garlic breath.
Achondroplasia
Zinc deficiency
Arsenic toxicity
Familial hypercholesterolemia


13. Aut - rec fructokinase deficiency. Can't P- late fructose - so can't enter cells. Benign - asymptomatic - just fructose in blood - urine.
Vitamin C (ascorbic acid) deficiency
Zellweger syndrome
Fructosouria
Niemann - Pick disease


14. 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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15. 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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16. 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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17. Hemolytic anemia (inc fragility of erythrocytes - vit E is antioxidant - protects erythrocytes / membranes from free - radical damage). Muscle weakness - neurodysfunction tooo.
Arsenic toxicity
Vitamin E deficiency
Hypertriglyceridemia
Familial adenomatous polyposis coli


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.
Patau's syndrome
Chediak - Higashi syndrome
Zellweger syndrome
Vitamin C (ascorbic acid) deficiency


19. 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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20. Aut - dom; mutation of NF2 gene (chr 22: 'type 2 = 22'). Bilateral acoustic neuromas - juvenile cataracts.
Neurofibromatosis type II
Kartagener's syndrome
Prader - Willi syndrome
Pompe's disease


21. Night blindness - dry skin
Vitamin A deficiency
Cystic fibrosis
Classic galactosemia
Vitamin E deficiency


22. A 22q11 deletion syndrome. Thymic - parathyroid - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Cell disease
Hypertriglyceridemia
Leber's hereditary optic neuropathy
DiGeorge syndrome


23. 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
Ornithine transcarbamoylase (OTC) deficiency
Pompe's disease
Hunter's syndrome
Tuberous sclerosis


24. 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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25. 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
Wet beriberi
APKD
Fructose intolerance
Ehlers - Danlos syndrome


26. 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
Vitamin D deficiency
Alkaptonuria (ochronosis)
Vitamin B6 deficiency


27. 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.
McArdle's disease
Fragile X
Hypervitaminosis A
Kwashiorkor


28. 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
Velocardiofacial syndrome
Von Gierke's disease
Fabry's disease


29. Rare; from abx or excessive raw egg ingestion (avidin in whites binds biotin). Dermatitis - alopecia - enteritis. Biotin used in carboxylation enzymes.
Xeroderma pigmentosum
Multiple endocrine neoplasias
Achondroplasia
Biotin deficiency


30. High output cardiac failure (dilated CM) - edema
Hereditary spherocytosis
Prader - Willi syndrome
Wet beriberi
Lactase deficiency


31. 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
Metachromic leukodystrophy
Vitamin D excess
Ehlers - Danlos syndrome
Vitamin C (ascorbic acid) deficiency


32. 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
Alport's syndrome
22q11 deletion syndromes
Ehlers - Danlos syndrome


33. 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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34. 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
Prader - Willi syndrome
Vitamin B3 excess
Zinc deficiency
Cystinuria


35. Type IV familial dyslipidemia. Hepatic overproduction of VLDL; VLDL increased; blood TGs elevated
Cystic fibrosis
APKD
Hypertriglyceridemia
Vitamin D excess


36. Pantothenate; in CoA. Dermatitis - enteritis - alopecia - adrenal insufficiency
Gaucher's disease
Krabbe's disease
Vitamin B5 deficiency
Vitamin B2 (riboflavin) deficiency


37. 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 B12 deficiency
Adenosine deaminase deficiency
Hyperammonemia
Tay- Sachs disease


38. 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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39. 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
Lesch - Nyhan Syndrome
Osteogenesis imperfecta
Neurofibromatosis type II


40. 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
Cystinuria
Lesch - Nyhan Syndrome
Lactase deficiency
Velocardiofacial syndrome


41. 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
McArdle's disease
Hypophosphatemic rickets
Metachromic leukodystrophy
Classic galactosemia


42. Hypercalcemia - hypercalciuria - loss of appetite - stupor. Seen in sarcoidosis (inc. activation of vitamin D by epithelioid macrophages).
Williams syndrome
Neurofibromatosis type I (von Recklinghausen's disease)
Vitamin D excess
Osteogenesis imperfecta


43. 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
DiGeorge syndrome
Vitamin A deficiency
Zinc deficiency


44. 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 deficiency
Fragile X
Abetalipoproteinemia
Adenosine deaminase deficiency


45. Facial flushing (niacin 'flushing' in pharm doses for hyperlipidemia treatment).
Classic galactosemia
Huntington's disease
Vitamin B3 excess
Marfan's syndrome


46. 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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47. 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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48. 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
Huntington's disease
Cystic fibrosis
Metachromic leukodystrophy
Neurofibromatosis type I (von Recklinghausen's disease)


49. Aut - dom; disorder of blood vessels. Telangiectasia - recurrent epistaxis - skin discolorations - AVMs. Incr. in Utah Mormons
Homocystinuria
Hereditary spherocytosis
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Vitamin B3 excess


50. 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
Galactokinase deficiency
Albinism
Homocystinuria
Osteogenesis imperfecta