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. Microtubule polymerization defect (no lysosomal tracking). Decreased phagocytosis. Recurrent pyogenic infections - partial albinism - peripheral neuropathy.
Prader - Willi syndrome
Chediak - Higashi syndrome
Vitamin B6 deficiency
Arsenic toxicity


2. 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.
Achondroplasia
Cri - du - chat syndrome
Vitamin B12 deficiency
Down syndrome


3. 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
Chediak - Higashi syndrome
Multiple endocrine neoplasias
Abetalipoproteinemia
Albinism


4. 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
Albinism
Prader - Willi syndrome
Marasmus
Biotin deficiency


5. 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
Marasmus
Familial hypercholesterolemia
Hereditary nonpolyposis colorectal cancer


6. Facial flushing (niacin 'flushing' in pharm doses for hyperlipidemia treatment).
Cell disease
Vitamin B3 excess
Gaucher's disease
Williams syndrome


7. 'Bear liver'guy - arthralgias - fatigue - headaches - skin changes - sore throat - alopecia. Also teratogenic (cleft palate - cardiac abnormalities)
Vitamin E deficiency
Hypervitaminosis A
Fragile X
Ehlers - Danlos syndrome


8. 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
Vitamin K deficiency
Marasmus
Von Gierke's disease


9. 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.
Cystinuria
Zellweger syndrome
Huntington's disease
Duchenne's muscular dystrophy


10. 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
Vitamin B6 deficiency
Cri - du - chat syndrome
Ornithine transcarbamoylase (OTC) deficiency
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)


11. (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!
Kwashiorkor
Huntington's disease
Pyruvate dehydrogenase deficiency
Familial hypercholesterolemia


12. Hemolytic anemia (inc fragility of erythrocytes - vit E is antioxidant - protects erythrocytes / membranes from free - radical damage). Muscle weakness - neurodysfunction tooo.
Niemann - Pick disease
22q11 deletion syndromes
Classic galactosemia
Vitamin E deficiency


13. 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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14. Aut - dom; mutation of NF2 gene (chr 22: 'type 2 = 22'). Bilateral acoustic neuromas - juvenile cataracts.
Neurofibromatosis type II
Kartagener's syndrome
Cell disease
Duchenne's muscular dystrophy


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'
Xeroderma pigmentosum
Williams syndrome
Hurler's syndrome
Lactase deficiency


16. 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
Angelman's syndrome
Becker's muscular dystrophy
APKD
Zellweger syndrome


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
Cystinuria
Cri - du - chat syndrome
Edwards' syndrome
Orotic aciduria


18. Immobile cilia (dynein arm defect). Infertility (M/F; sperm immotile) - bronchiectasis - recurrent sinusitis (not pushing out bacteria / particles). A/W situs inversus

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


20. 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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21. 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
Niemann - Pick disease
APKD
Hurler's syndrome
Hyperammonemia


22. Rickets in children (bending bones); osteomalacia in adults (soft bones). Also hypocalcemic tetany.
Pellagra
Vitamin D deficiency
Gaucher's disease
McArdle's disease


23. Rare; from abx or excessive raw egg ingestion (avidin in whites binds biotin). Dermatitis - alopecia - enteritis. Biotin used in carboxylation enzymes.
Vitamin B2 (riboflavin) deficiency
Marasmus
Vitamin D excess
Biotin deficiency


24. Mutation in mismatch repair genes (mismatched nucleotides in unmethylated / newly synthesized string recognized + removed)
Niemann - Pick disease
Hereditary nonpolyposis colorectal cancer
Vitamin B12 deficiency
Fragile X


25. 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
Ornithine transcarbamoylase (OTC) deficiency
Homocystinuria
Patau's syndrome
Cystic fibrosis


26. Protein malnutrition. Skin lesions - edema - liver malfunction (fatty change). Small child - swollen belly.
Vitamin B12 deficiency
Kwashiorkor
Vitamin B2 (riboflavin) deficiency
Tuberous sclerosis


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.
Alkaptonuria (ochronosis)
Fructose intolerance
Classic galactosemia
Fragile X


28. High output cardiac failure (dilated CM) - edema
Vitamin B6 deficiency
Tay- Sachs disease
Wet beriberi
Maple syrup urine disease


29. 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
Familial hypercholesterolemia
Ehlers - Danlos syndrome
Lesch - Nyhan Syndrome
Osteogenesis imperfecta


30. Aut - rec fructokinase deficiency. Can't P- late fructose - so can't enter cells. Benign - asymptomatic - just fructose in blood - urine.
Fructosouria
Maple syrup urine disease
Zinc deficiency
Ehlers - Danlos syndrome


31. 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
Vitamin D deficiency
Von Gierke's disease
Huntington's disease


32. 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
Williams syndrome
Marfan's syndrome
Cell disease
Classic galactosemia


33. B1 (thiamine) deficiency. Polyneuritis - symmetrical muscle wasting
Dry beriberi
Huntington's disease
Krabbe's disease
von Hippel - Lindau disease


34. 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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35. Age dep or hereditary lactose intolerance (blacks / Asians); lose brush - border enzyme. Bloating - cramps - osmotic diarrhea. Avoid dairy / use lactase pills.
Hypervitaminosis A
Lactase deficiency
Orotic aciduria
Fragile X


36. 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
Williams syndrome
DiGeorge syndrome
Pompe's disease
Dry beriberi


37. Hypercalcemia - hypercalciuria - loss of appetite - stupor. Seen in sarcoidosis (inc. activation of vitamin D by epithelioid macrophages).
Vitamin D excess
Hereditary nonpolyposis colorectal cancer
Hypervitaminosis A
Osteogenesis imperfecta


38. 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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39. Aut - dom - defect in spectrin or ankyrin. Hemolytic anemia - increased MCHC (mean corpuscular hemoglobin concentration). Splenectomy is curative
Hunter's syndrome
DiGeorge syndrome
Hereditary spherocytosis
Hurler's syndrome


40. 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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41. 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'
Tay- Sachs disease
Lesch - Nyhan Syndrome
Classic galactosemia
Refsum disease


42. A 22q11 deletion syndrome. Palate - facial - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Velocardiofacial syndrome
Vitamin K deficiency
Maple syrup urine disease
Kartagener's syndrome


43. 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
Maple syrup urine disease
Familial hypercholesterolemia
Hereditary nonpolyposis colorectal cancer
Hyperchylomicronemia


44. 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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45. 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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46. 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
Cri - du - chat syndrome
Fragile X
Vitamin B6 deficiency
Zellweger syndrome


47. 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
Duchenne's muscular dystrophy
Phenylketonuria
Arsenic toxicity
Vitamin K deficiency


48. 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.
Alkaptonuria (ochronosis)
Classic galactosemia
Hunter's syndrome
Hyperchylomicronemia


49. 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
Tuberous sclerosis
Vitamin A deficiency
Biotin deficiency
Hyperammonemia


50. Cheilosis - corneal vascularization (the 2 C's)
Ornithine transcarbamoylase (OTC) deficiency
Vitamin B2 (riboflavin) deficiency
Familial hypercholesterolemia
Cell disease