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. 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
Huntington's disease
Phenylketonuria
G6PD deficiency
Krabbe's disease


2. 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
Gaucher's disease
Hereditary spherocytosis
Cystic fibrosis


3. Aut - dom; disorder of blood vessels. Telangiectasia - recurrent epistaxis - skin discolorations - AVMs. Incr. in Utah Mormons
Gaucher's disease
Kartagener's syndrome
Vitamin A deficiency
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)


4. Aut - dom - defect in spectrin or ankyrin. Hemolytic anemia - increased MCHC (mean corpuscular hemoglobin concentration). Splenectomy is curative
Prader - Willi syndrome
Hereditary spherocytosis
Orotic aciduria
Vitamin D excess


5. Protein malnutrition. Skin lesions - edema - liver malfunction (fatty change). Small child - swollen belly.
Von Gierke's disease
Refsum disease
Adenosine deaminase deficiency
Kwashiorkor


6. 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.
Lesch - Nyhan Syndrome
Fructose intolerance
Duchenne's muscular dystrophy
Zellweger syndrome


7. 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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8. Mutation in mismatch repair genes (mismatched nucleotides in unmethylated / newly synthesized string recognized + removed)
Wet beriberi
Hereditary spherocytosis
Hereditary nonpolyposis colorectal cancer
Adenosine deaminase deficiency


9. Inhibits lipoic acid (required for pyruvate dehydrogenase complex - pyruvate to acetyl - coA). Vomiting - rice water stools - garlic breath.
Chediak - Higashi syndrome
Arsenic toxicity
Vitamin E deficiency
Abetalipoproteinemia


10. 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
Multiple endocrine neoplasias
APKD
Pompe's disease
Cri - du - chat syndrome


11. 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
Hypervitaminosis A
Hereditary nonpolyposis colorectal cancer
Pompe's disease


12. 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
22q11 deletion syndromes
Refsum disease
Neurofibromatosis type I (von Recklinghausen's disease)
Down syndrome


13. A 22q11 deletion syndrome. Palate - facial - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Familial hypercholesterolemia
Velocardiofacial syndrome
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Hereditary spherocytosis


14. 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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15. 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.
Fructose intolerance
Arsenic toxicity
Edwards' syndrome
Tuberous sclerosis


16. 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
Hurler's syndrome
Vitamin K deficiency
Alport's syndrome
Niemann - Pick disease


17. 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
Pyruvate dehydrogenase deficiency
Cystinuria
Leber's hereditary optic neuropathy
Cori's disease


18. 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
Hypophosphatemic rickets
Lesch - Nyhan Syndrome
Marasmus
G6PD deficiency


19. 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 D excess
Vitamin B6 deficiency
Tuberous sclerosis
Orotic aciduria


20. 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'
Gaucher's disease
Galactokinase deficiency
Vitamin C (ascorbic acid) deficiency
Xeroderma pigmentosum


21. 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
Velocardiofacial syndrome
Pyruvate dehydrogenase deficiency
Hypophosphatemic rickets


22. 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
Zinc deficiency
Familial hypercholesterolemia
Maple syrup urine disease


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

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24. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of arylsulfatase A - cerbroside sulfate accumulates. Central / peripheral demyelination - ataxia - dementia.
Homocystinuria
Metachromic leukodystrophy
Vitamin C (ascorbic acid) deficiency
G6PD deficiency


25. Facial flushing (niacin 'flushing' in pharm doses for hyperlipidemia treatment).
Ornithine transcarbamoylase (OTC) deficiency
Pompe's disease
Vitamin B3 excess
Hyperammonemia


26. 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
G6PD deficiency
Hyperammonemia
Vitamin B12 deficiency
von Hippel - Lindau disease


27. (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
Refsum disease
Chediak - Higashi syndrome
Alport's syndrome


28. Pantothenate; in CoA. Dermatitis - enteritis - alopecia - adrenal insufficiency
Duchenne's muscular dystrophy
Vitamin B5 deficiency
Pompe's disease
Achondroplasia


29. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of galactocerebosidase; galactocerebroside accumulates. Peripheral neuropathy - developmental delay - optic atrophy - globoid cells (multinucleated).

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30. 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.
Neurofibromatosis type I (von Recklinghausen's disease)
von Hippel - Lindau disease
Vitamin B12 deficiency
Galactokinase deficiency


31. Brittle bone disease; genetic bone disorder. Variety of gene defects. Type II fatal in utero - neonatal. Most common form: AD with abnormal type I collagen (bone): multiple fractures w/ minimal trauma (e.g. during birth) - blue sclerae (translucent c
Osteogenesis imperfecta
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Refsum disease
Vitamin D excess


32. 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
Kartagener's syndrome
Albinism
Von Gierke's disease
Adenosine deaminase deficiency


33. 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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34. 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
Von Gierke's disease
Cystinuria
Vitamin K deficiency


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

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36. 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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37. 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
Familial hypercholesterolemia
Hypervitaminosis A
Hypertriglyceridemia
Cri - du - chat syndrome


38. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of hexosaminidase A; GM2 ganglioside accumulates. Progressive neurodegeneration - developmental delay - cherry- red spot on macula - lysosomes with 'onion skin'
Down syndrome
Fructose intolerance
Tay- Sachs disease
22q11 deletion syndromes


39. 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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40. Energy malnutrition. Tissue / muscle wasting - loss of subQ fat - variable edema.
Tay- Sachs disease
Adenosine deaminase deficiency
Marasmus
Fructose intolerance


41. 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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42. 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
Hyperchylomicronemia
Marfan's syndrome
Achondroplasia
Biotin deficiency


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
Vitamin B12 deficiency
Fructosouria
Achondroplasia


44. High output cardiac failure (dilated CM) - edema
Vitamin C (ascorbic acid) deficiency
Tuberous sclerosis
Adenosine deaminase deficiency
Wet beriberi


45. 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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46. 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
Folic acid deficiency
Alport's syndrome
Edwards' syndrome
Zinc deficiency


47. 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
Vitamin B2 (riboflavin) deficiency
Metachromic leukodystrophy
Lesch - Nyhan Syndrome
Ornithine transcarbamoylase (OTC) deficiency


48. Night blindness - dry skin
Vitamin A deficiency
Edwards' syndrome
Xeroderma pigmentosum
Biotin deficiency


49. 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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50. 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 - '
Xeroderma pigmentosum
Abetalipoproteinemia
Maple syrup urine disease
Angelman's syndrome