Instructions:

• Answer 50 questions in 15 minutes.
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• Match each statement with the correct term.
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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. Aut - dom; I/II/III - familial tumors of endocrine glands (pancreas - parathyroid - pituitary - thyroid - adrenal medulla). II / III a/w ret gene
Hyperammonemia
Multiple endocrine neoplasias
Neurofibromatosis type II
Fructose intolerance


2. B1 (thiamine) deficiency. Polyneuritis - symmetrical muscle wasting
Dry beriberi
Abetalipoproteinemia
Hereditary spherocytosis
Becker's muscular dystrophy


3. 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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4. 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.
Hyperammonemia
Fructose intolerance
Refsum disease
Zellweger syndrome


5. Hypercalcemia - hypercalciuria - loss of appetite - stupor. Seen in sarcoidosis (inc. activation of vitamin D by epithelioid macrophages).
von Hippel - Lindau disease
Galactokinase deficiency
Niemann - Pick disease
Vitamin D excess


6. Energy malnutrition. Tissue / muscle wasting - loss of subQ fat - variable edema.
Marasmus
Vitamin A deficiency
Cell disease
Refsum disease


7. 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
Lactase deficiency
Homocystinuria
Wet beriberi
Neurofibromatosis type II


8. 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
Galactokinase deficiency
Hyperammonemia
Hypervitaminosis A
Pompe's disease


9. 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 - '
Abetalipoproteinemia
Marfan's syndrome
Achondroplasia
Pellagra


10. Aut - rec fructokinase deficiency. Can't P- late fructose - so can't enter cells. Benign - asymptomatic - just fructose in blood - urine.
Fructosouria
Marfan's syndrome
Ornithine transcarbamoylase (OTC) deficiency
Patau's syndrome


11. A 22q11 deletion syndrome. Thymic - parathyroid - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Vitamin B2 (riboflavin) deficiency
Hypertriglyceridemia
Niemann - Pick disease
DiGeorge syndrome


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

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13. 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
Homocystinuria
Vitamin K deficiency
Hyperammonemia
Cri - du - chat syndrome


14. Mutation in mismatch repair genes (mismatched nucleotides in unmethylated / newly synthesized string recognized + removed)
Zellweger syndrome
Cystic fibrosis
Folic acid deficiency
Hereditary nonpolyposis colorectal cancer


15. 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
Duchenne's muscular dystrophy
Vitamin D deficiency
Adenosine deaminase deficiency
Hypophosphatemic rickets


16. High output cardiac failure (dilated CM) - edema
Fructose intolerance
Multiple endocrine neoplasias
Arsenic toxicity
Wet beriberi


17. 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'
Kartagener's syndrome
Tay- Sachs disease
Hereditary spherocytosis
Marfan's syndrome


18. 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
Cystic fibrosis
Ehlers - Danlos syndrome
Vitamin B3 excess
Fructosouria


19. 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
Vitamin D deficiency
Prader - Willi syndrome
Vitamin C (ascorbic acid) deficiency
Down syndrome


20. 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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21. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of sphingomyelinase; sphingomyelin accumulates. Progressive neurodegeneration - hepatosplenomegaly - cherry- red spot on macula - foam cells.
Gaucher's disease
Tuberous sclerosis
Niemann - Pick disease
Angelman's syndrome


22. 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
Albinism
Williams syndrome
Kartagener's syndrome
Familial adenomatous polyposis coli


23. 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
Fructosouria
Fragile X
Huntington's disease
Williams syndrome


24. 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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25. 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.
Fructosouria
Fabry's disease
Tay- Sachs disease
Galactokinase deficiency


26. A 22q11 deletion syndrome. Palate - facial - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Velocardiofacial syndrome
Neurofibromatosis type II
Dry beriberi
Hunter's syndrome


27. 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
Cystinuria
Vitamin E deficiency
von Hippel - Lindau disease
Osteogenesis imperfecta


28. 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
Hereditary nonpolyposis colorectal cancer
Metachromic leukodystrophy
G6PD deficiency
APKD


29. 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
Vitamin K deficiency
Abetalipoproteinemia
Vitamin B2 (riboflavin) deficiency
Metachromic leukodystrophy


30. 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
Alport's syndrome
Vitamin D deficiency
G6PD deficiency
APKD


31. 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
Multiple endocrine neoplasias
Orotic aciduria
Hunter's syndrome


32. Aut - dom; mutation of NF2 gene (chr 22: 'type 2 = 22'). Bilateral acoustic neuromas - juvenile cataracts.
Neurofibromatosis type II
Vitamin K deficiency
Osteogenesis imperfecta
Fructosouria


33. Microtubule polymerization defect (no lysosomal tracking). Decreased phagocytosis. Recurrent pyogenic infections - partial albinism - peripheral neuropathy.
Multiple endocrine neoplasias
Orotic aciduria
Chediak - Higashi syndrome
Cell disease


34. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of arylsulfatase A - cerbroside sulfate accumulates. Central / peripheral demyelination - ataxia - dementia.
Fructose intolerance
Vitamin A deficiency
Angelman's syndrome
Metachromic leukodystrophy


35. 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
Niemann - Pick disease
Vitamin C (ascorbic acid) deficiency
Hypertriglyceridemia
Kartagener's syndrome


36. Night blindness - dry skin
Patau's syndrome
Vitamin A deficiency
Cri - du - chat syndrome
Lactase deficiency


37. 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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38. 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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39. Aut - dom - defect in spectrin or ankyrin. Hemolytic anemia - increased MCHC (mean corpuscular hemoglobin concentration). Splenectomy is curative
Becker's muscular dystrophy
Prader - Willi syndrome
Hereditary spherocytosis
Fructose intolerance


40. 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
Familial hypercholesterolemia
Von Gierke's disease
Cystinuria


41. 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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42. 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
Multiple endocrine neoplasias
Pellagra
Cri - du - chat syndrome
Biotin deficiency


43. 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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44. 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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45. Facial flushing (niacin 'flushing' in pharm doses for hyperlipidemia treatment).
Prader - Willi syndrome
Folic acid deficiency
Cori's disease
Vitamin B3 excess


46. 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
Hereditary nonpolyposis colorectal cancer
Adenosine deaminase deficiency
Hurler's syndrome
Cell disease


47. 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
Vitamin D deficiency
22q11 deletion syndromes
Abetalipoproteinemia


48. 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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49. Peroxisomal disease; no alpha - oxidation of branched - chain FA like phytanic acid. Neuro sx; Tx = avoid chlorophyll
Refsum disease
Krabbe's disease
Fragile X
Vitamin B12 deficiency


50. Aut - rec absence of galactose -1- phosphate uridyltransferase; toxic substances accumulate (e.g. galactitol in lens of eye). FTT - jaundice - hepatomegaly - infantile cataracts - MR. Tx: no galactose / lactose (glucose + galactose).
Classic galactosemia
Hyperammonemia
Niemann - Pick disease
Kwashiorkor