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. 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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2. 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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3. 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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4. Inhibits lipoic acid (required for pyruvate dehydrogenase complex - pyruvate to acetyl - coA). Vomiting - rice water stools - garlic breath.
Neurofibromatosis type II
Refsum disease
Arsenic toxicity
Folic acid deficiency


5. Aut - dom; I/II/III - familial tumors of endocrine glands (pancreas - parathyroid - pituitary - thyroid - adrenal medulla). II / III a/w ret gene
Hypervitaminosis A
Hereditary spherocytosis
Multiple endocrine neoplasias
Vitamin B12 deficiency


6. A 22q11 deletion syndrome. Palate - facial - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Cystic fibrosis
Velocardiofacial syndrome
Kwashiorkor
Neurofibromatosis type II


7. 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.
Adenosine deaminase deficiency
Alkaptonuria (ochronosis)
Vitamin B5 deficiency
Galactokinase deficiency


8. 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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9. 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
Cystic fibrosis
Galactokinase deficiency
Dry beriberi
Familial hypercholesterolemia


10. 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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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'
McArdle's disease
Xeroderma pigmentosum
von Hippel - Lindau disease
Classic galactosemia


12. (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!
Familial hypercholesterolemia
Familial hypercholesterolemia
Marasmus
Pyruvate dehydrogenase deficiency


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
Hypophosphatemic rickets
Fragile X
Maple syrup urine disease
Vitamin C (ascorbic acid) deficiency


14. Age dep or hereditary lactose intolerance (blacks / Asians); lose brush - border enzyme. Bloating - cramps - osmotic diarrhea. Avoid dairy / use lactase pills.
Lesch - Nyhan Syndrome
Hypophosphatemic rickets
Lactase deficiency
Pyruvate dehydrogenase deficiency


15. High output cardiac failure (dilated CM) - edema
Adenosine deaminase deficiency
Abetalipoproteinemia
Wet beriberi
Chediak - Higashi syndrome


16. 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.
Cell disease
Vitamin B2 (riboflavin) deficiency
Vitamin E deficiency
Fragile X


17. 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
Ehlers - Danlos syndrome
Hyperammonemia
22q11 deletion syndromes
Hunter's syndrome


18. Rare; from abx or excessive raw egg ingestion (avidin in whites binds biotin). Dermatitis - alopecia - enteritis. Biotin used in carboxylation enzymes.
Orotic aciduria
Vitamin B2 (riboflavin) deficiency
Biotin deficiency
APKD


19. 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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20. 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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21. 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
Fructose intolerance
Albinism
Neurofibromatosis type II


22. 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
Hereditary spherocytosis
Kartagener's syndrome
DiGeorge syndrome


23. 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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24. Pantothenate; in CoA. Dermatitis - enteritis - alopecia - adrenal insufficiency
Vitamin B5 deficiency
Phenylketonuria
Down syndrome
Hereditary nonpolyposis colorectal cancer


25. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of sphingomyelinase; sphingomyelin accumulates. Progressive neurodegeneration - hepatosplenomegaly - cherry- red spot on macula - foam cells.
Pyruvate dehydrogenase deficiency
Von Gierke's disease
Niemann - Pick disease
Lactase deficiency


26. 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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27. 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.
Vitamin B5 deficiency
Neurofibromatosis type I (von Recklinghausen's disease)
Fructose intolerance
Zinc deficiency


28. Aut - dom - defect in spectrin or ankyrin. Hemolytic anemia - increased MCHC (mean corpuscular hemoglobin concentration). Splenectomy is curative
Refsum disease
Hyperchylomicronemia
Marfan's syndrome
Hereditary spherocytosis


29. 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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30. A 22q11 deletion syndrome. Thymic - parathyroid - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
DiGeorge syndrome
Familial adenomatous polyposis coli
Vitamin B3 excess
Fragile X


31. Type IIa familial dyslipidemia. Aut - dom absence / decrease in LDL receptors. LDLs increased - blood cholesterol elevated.
Familial hypercholesterolemia
McArdle's disease
Hypertriglyceridemia
Adenosine deaminase deficiency


32. Energy malnutrition. Tissue / muscle wasting - loss of subQ fat - variable edema.
Ehlers - Danlos syndrome
Hereditary spherocytosis
Marasmus
Metachromic leukodystrophy


33. Microtubule polymerization defect (no lysosomal tracking). Decreased phagocytosis. Recurrent pyogenic infections - partial albinism - peripheral neuropathy.
Vitamin D excess
Zinc deficiency
Chediak - Higashi syndrome
Galactokinase deficiency


34. 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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35. 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
Vitamin E deficiency
Gaucher's disease
Wet beriberi


36. Facial flushing (niacin 'flushing' in pharm doses for hyperlipidemia treatment).
Vitamin B3 excess
Hypertriglyceridemia
Marasmus
Edwards' syndrome


37. Cheilosis - corneal vascularization (the 2 C's)
Familial hypercholesterolemia
Prader - Willi syndrome
Vitamin B2 (riboflavin) deficiency
Xeroderma pigmentosum


38. 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
Abetalipoproteinemia
Adenosine deaminase deficiency
APKD
Vitamin D deficiency


39. 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.
G6PD deficiency
Ehlers - Danlos syndrome
Orotic aciduria
Vitamin B12 deficiency


40. 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
Xeroderma pigmentosum
Prader - Willi syndrome
Down syndrome
Homocystinuria


41. 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
Lesch - Nyhan Syndrome
Chediak - Higashi syndrome
Marasmus
Refsum disease


42. Aut - dom cell - signaling defect in fibroblast growth factor receptor 3 (FGFr3). Dwarfism: short limbs but head/trunk normal. A/W advanced paternal age
Maple syrup urine disease
Vitamin C (ascorbic acid) deficiency
Achondroplasia
Cori's disease


43. 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.
Vitamin B12 deficiency
Fructosouria
Alkaptonuria (ochronosis)
Vitamin B5 deficiency


44. 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
Hurler's syndrome
Vitamin C (ascorbic acid) deficiency
Neurofibromatosis type II
Cell disease


45. 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
Tay- Sachs disease
Vitamin B12 deficiency
Phenylketonuria
Vitamin E deficiency


46. 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
Hyperammonemia
Fructose intolerance
Vitamin C (ascorbic acid) deficiency
Lesch - Nyhan Syndrome


47. B1 (thiamine) deficiency. Polyneuritis - symmetrical muscle wasting
Vitamin B6 deficiency
Xeroderma pigmentosum
Arsenic toxicity
Dry beriberi


48. Delayed wound healing - hypogonadism - dec. adult hair (axillary / facial / pubic); ?predispose to alcoholic cirrhosis?
Hyperammonemia
Phenylketonuria
Pompe's disease
Zinc deficiency


49. 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
Dry beriberi
Hypophosphatemic rickets
Cell disease
Vitamin B6 deficiency


50. Bleeds (gamma - carboxylation of glutamic acid residues on factors II - VII - IX - X - protein C - S). Neonatal hemorrhage (inc PT - aPTT - normal bleeding time - sterile intestine in newborn - can't synthesize vitK - synthesized by intestinal flora
Chediak - Higashi syndrome
Huntington's disease
Vitamin K deficiency
APKD