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. Inhibits lipoic acid (required for pyruvate dehydrogenase complex - pyruvate to acetyl - coA). Vomiting - rice water stools - garlic breath.
Arsenic toxicity
Familial adenomatous polyposis coli
Vitamin B2 (riboflavin) deficiency
Multiple endocrine neoplasias


2. Hypercalcemia - hypercalciuria - loss of appetite - stupor. Seen in sarcoidosis (inc. activation of vitamin D by epithelioid macrophages).
Vitamin B12 deficiency
Vitamin D excess
Fructosouria
Ornithine transcarbamoylase (OTC) deficiency


3. 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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4. 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
Folic acid deficiency
Hypertriglyceridemia
Familial hypercholesterolemia
Alport's syndrome


5. 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
Angelman's syndrome
Osteogenesis imperfecta
Hyperammonemia


6. 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 - '
Dry beriberi
Vitamin E deficiency
Abetalipoproteinemia
Krabbe's disease


7. 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
Multiple endocrine neoplasias
Ehlers - Danlos syndrome
Velocardiofacial syndrome


8. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of arylsulfatase A - cerbroside sulfate accumulates. Central / peripheral demyelination - ataxia - dementia.
Ornithine transcarbamoylase (OTC) deficiency
Von Gierke's disease
Metachromic leukodystrophy
Albinism


9. Aut - dom; I/II/III - familial tumors of endocrine glands (pancreas - parathyroid - pituitary - thyroid - adrenal medulla). II / III a/w ret gene
Vitamin B2 (riboflavin) deficiency
Hypertriglyceridemia
Multiple endocrine neoplasias
Achondroplasia


10. 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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11. 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'
G6PD deficiency
Xeroderma pigmentosum
Vitamin B2 (riboflavin) deficiency
Familial hypercholesterolemia


12. 'Bear liver'guy - arthralgias - fatigue - headaches - skin changes - sore throat - alopecia. Also teratogenic (cleft palate - cardiac abnormalities)
Hypervitaminosis A
Wet beriberi
Neurofibromatosis type I (von Recklinghausen's disease)
Phenylketonuria


13. 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
Familial adenomatous polyposis coli
Maple syrup urine disease
Fragile X
Wet beriberi


14. 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
Lactase deficiency
Lesch - Nyhan Syndrome
Vitamin B3 excess
Vitamin A deficiency


15. 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 B5 deficiency
Kwashiorkor
Maple syrup urine disease
Vitamin B6 deficiency


16. 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
Leber's hereditary optic neuropathy
Albinism
Prader - Willi syndrome
Krabbe's disease


17. 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.
Hereditary nonpolyposis colorectal cancer
Fructose intolerance
Fragile X
Multiple endocrine neoplasias


18. Aut - dom cell - signaling defect in fibroblast growth factor receptor 3 (FGFr3). Dwarfism: short limbs but head/trunk normal. A/W advanced paternal age
Achondroplasia
Becker's muscular dystrophy
Prader - Willi syndrome
Lesch - Nyhan Syndrome


19. Protein malnutrition. Skin lesions - edema - liver malfunction (fatty change). Small child - swollen belly.
McArdle's disease
Orotic aciduria
Lesch - Nyhan Syndrome
Kwashiorkor


20. 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
Familial hypercholesterolemia
Hypervitaminosis A
Fragile X
Orotic aciduria


21. 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
Leber's hereditary optic neuropathy
Abetalipoproteinemia
Vitamin B2 (riboflavin) deficiency
22q11 deletion syndromes


22. 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
Patau's syndrome
Osteogenesis imperfecta
Classic galactosemia
Williams syndrome


23. Facial flushing (niacin 'flushing' in pharm doses for hyperlipidemia treatment).
Vitamin B3 excess
Hyperchylomicronemia
Williams syndrome
Vitamin B6 deficiency


24. 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
Vitamin B12 deficiency
Tuberous sclerosis
Gaucher's disease
Homocystinuria


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

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26. 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
Osteogenesis imperfecta
Marasmus
Tuberous sclerosis


27. Energy malnutrition. Tissue / muscle wasting - loss of subQ fat - variable edema.
Marasmus
Galactokinase deficiency
Vitamin E deficiency
Von Gierke's disease


28. 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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29. 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
Leber's hereditary optic neuropathy
Von Gierke's disease
Williams syndrome
Ornithine transcarbamoylase (OTC) deficiency


30. 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
Cri - du - chat syndrome
Zellweger syndrome
Multiple endocrine neoplasias
Niemann - Pick disease


31. 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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32. Macrocytic - megaloblastic anemia w/o neuro sx. #1 vitamin deficiency in USA; see in alcoholism / pregnancy (neural tube defects; supplement in early pregnancy) - also drugs (phenytoin - sulfas - MTX). From FOLiage (leafy greens) with small reserve p
Refsum disease
Ehlers - Danlos syndrome
Marfan's syndrome
Folic acid deficiency


33. Pantothenate; in CoA. Dermatitis - enteritis - alopecia - adrenal insufficiency
Kartagener's syndrome
Hurler's syndrome
Neurofibromatosis type I (von Recklinghausen's disease)
Vitamin B5 deficiency


34. 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
Familial adenomatous polyposis coli
Hurler's syndrome
Hyperchylomicronemia
APKD


35. Type IIa familial dyslipidemia. Aut - dom absence / decrease in LDL receptors. LDLs increased - blood cholesterol elevated.
Familial hypercholesterolemia
Down syndrome
DiGeorge syndrome
Kwashiorkor


36. 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
von Hippel - Lindau disease
Marfan's syndrome
G6PD deficiency


37. 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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38. Night blindness - dry skin
Vitamin E deficiency
Vitamin A deficiency
Vitamin B5 deficiency
Leber's hereditary optic neuropathy


39. 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
Familial adenomatous polyposis coli
G6PD deficiency
Homocystinuria
Vitamin B12 deficiency


40. 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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41. Peroxisomal disease; no alpha - oxidation of branched - chain FA like phytanic acid. Neuro sx; Tx = avoid chlorophyll
Cri - du - chat syndrome
Niemann - Pick disease
Phenylketonuria
Refsum disease


42. A 22q11 deletion syndrome. Thymic - parathyroid - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Vitamin B12 deficiency
Hunter's syndrome
DiGeorge syndrome
Pyruvate dehydrogenase deficiency


43. 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
Vitamin K deficiency
Duchenne's muscular dystrophy
Alport's syndrome


44. Aut - rec deficiency of homogentisic acid oxidase (degradative pathway of tyrosine) - benign disease. Dark connective tissue - pigmented sclera - urine turnes black on standing - may have debilitating arthralgias.
Prader - Willi syndrome
Alkaptonuria (ochronosis)
Albinism
Leber's hereditary optic neuropathy


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.
Hypervitaminosis A
Homocystinuria
Fragile X
DiGeorge syndrome


46. Aut - rec galactokinase deficiency. Galactitol can accumulate if galactose present in diet; relatively mild. Galactose in blood / urine - infantile cataracts (may not track objects - develop social smile.
Galactokinase deficiency
Homocystinuria
Edwards' syndrome
Huntington's disease


47. 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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48. 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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49. 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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50. 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
Chediak - Higashi syndrome
Adenosine deaminase deficiency
Hyperammonemia
Pompe's disease