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. 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
Hypophosphatemic rickets
Patau's syndrome
Vitamin B6 deficiency
Down syndrome


2. 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
Williams syndrome
Orotic aciduria
Ehlers - Danlos syndrome
Zellweger syndrome


3. 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
Down syndrome
22q11 deletion syndromes
Vitamin D excess
Marfan's syndrome


4. 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
Hurler's syndrome
Marasmus
Tuberous sclerosis
G6PD deficiency


5. Pantothenate; in CoA. Dermatitis - enteritis - alopecia - adrenal insufficiency
Cystic fibrosis
Alkaptonuria (ochronosis)
Vitamin B5 deficiency
Fructose intolerance


6. 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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7. 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 - '
Vitamin D deficiency
Krabbe's disease
Chediak - Higashi syndrome
Abetalipoproteinemia


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
Fructose intolerance
DiGeorge syndrome
Albinism
Hyperammonemia


9. Peroxisomal disease; no alpha - oxidation of branched - chain FA like phytanic acid. Neuro sx; Tx = avoid chlorophyll
Refsum disease
Classic galactosemia
Hereditary nonpolyposis colorectal cancer
Kartagener's syndrome


10. 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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11. 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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12. Protein malnutrition. Skin lesions - edema - liver malfunction (fatty change). Small child - swollen belly.
Pompe's disease
Gaucher's disease
Kwashiorkor
Von Gierke's disease


13. 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
G6PD deficiency
Hunter's syndrome
Prader - Willi syndrome
Maple syrup urine disease


14. Age dep or hereditary lactose intolerance (blacks / Asians); lose brush - border enzyme. Bloating - cramps - osmotic diarrhea. Avoid dairy / use lactase pills.
Hyperchylomicronemia
Lactase deficiency
Hurler's syndrome
Osteogenesis imperfecta


15. 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
Cori's disease
Hunter's syndrome
22q11 deletion syndromes
Adenosine deaminase deficiency


16. Aut - dom; I/II/III - familial tumors of endocrine glands (pancreas - parathyroid - pituitary - thyroid - adrenal medulla). II / III a/w ret gene
Hypophosphatemic rickets
Multiple endocrine neoplasias
Lactase deficiency
Adenosine deaminase deficiency


17. Mutation in mismatch repair genes (mismatched nucleotides in unmethylated / newly synthesized string recognized + removed)
Familial hypercholesterolemia
Hereditary nonpolyposis colorectal cancer
Cell disease
Vitamin B3 excess


18. 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.
Vitamin B12 deficiency
Galactokinase deficiency
Von Gierke's disease
Niemann - Pick disease


19. 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
Alport's syndrome
Hyperammonemia
Ornithine transcarbamoylase (OTC) deficiency
Cell disease


20. 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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21. 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
Vitamin B12 deficiency
Von Gierke's disease


22. A 22q11 deletion syndrome. Palate - facial - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Hypervitaminosis A
Velocardiofacial syndrome
Edwards' syndrome
Marfan's syndrome


23. 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
Duchenne's muscular dystrophy
Hereditary nonpolyposis colorectal cancer
Cell disease
Pellagra


24. Type IIa familial dyslipidemia. Aut - dom absence / decrease in LDL receptors. LDLs increased - blood cholesterol elevated.
Vitamin D deficiency
Vitamin B5 deficiency
Familial hypercholesterolemia
Tay- Sachs disease


25. 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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26. Aut - dom - Fibrillin defect (scaffolding for elastin formation - stretchy protein for lungs - large arteries - elastic ligaments - vocal cords - ligamenta flava). Connective tissue disorder: skeleton - heart - eyes affected. Tall - long extremities

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27. Converts adenosine to inosine in purine salvage pathway. Excess ATP - dATP in nucleotide pool = imbalance (feedback inhibition of ribonucleotide reductase - preventing DNA synthesis) - so decreased lymphocyte count (major cause of SCID - severe combi
Ornithine transcarbamoylase (OTC) deficiency
Adenosine deaminase deficiency
Huntington's disease
Marasmus


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

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29. 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.
Zellweger syndrome
Hereditary nonpolyposis colorectal cancer
Hypertriglyceridemia
Gaucher's disease


30. 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
Familial adenomatous polyposis coli
Vitamin C (ascorbic acid) deficiency
Wet beriberi
Prader - Willi syndrome


31. 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
Familial hypercholesterolemia
Vitamin C (ascorbic acid) deficiency
Galactokinase deficiency


32. Aut - dom; disorder of blood vessels. Telangiectasia - recurrent epistaxis - skin discolorations - AVMs. Incr. in Utah Mormons
Vitamin K deficiency
Down syndrome
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Hypertriglyceridemia


33. Microtubule polymerization defect (no lysosomal tracking). Decreased phagocytosis. Recurrent pyogenic infections - partial albinism - peripheral neuropathy.
Chediak - Higashi syndrome
Cri - du - chat syndrome
Pyruvate dehydrogenase deficiency
Angelman's syndrome


34. 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
Alport's syndrome
Prader - Willi syndrome
Homocystinuria
Lesch - Nyhan Syndrome


35. Type IV familial dyslipidemia. Hepatic overproduction of VLDL; VLDL increased; blood TGs elevated
Vitamin C (ascorbic acid) deficiency
Hypertriglyceridemia
Lesch - Nyhan Syndrome
Von Gierke's disease


36. 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'
Velocardiofacial syndrome
Galactokinase deficiency
Dry beriberi
Xeroderma pigmentosum


37. 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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38. 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
Dry beriberi
G6PD deficiency
Familial hypercholesterolemia
Vitamin D excess


39. Aut - dom - defect in spectrin or ankyrin. Hemolytic anemia - increased MCHC (mean corpuscular hemoglobin concentration). Splenectomy is curative
Hereditary spherocytosis
Prader - Willi syndrome
Hyperchylomicronemia
Tay- Sachs disease


40. 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
Lactase deficiency
Abetalipoproteinemia
Hereditary nonpolyposis colorectal cancer


41. 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
Orotic aciduria
Achondroplasia
22q11 deletion syndromes


42. 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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43. Aut - dom; mutation of NF2 gene (chr 22: 'type 2 = 22'). Bilateral acoustic neuromas - juvenile cataracts.
Neurofibromatosis type II
Achondroplasia
Refsum disease
Becker's muscular dystrophy


44. Hemolytic anemia (inc fragility of erythrocytes - vit E is antioxidant - protects erythrocytes / membranes from free - radical damage). Muscle weakness - neurodysfunction tooo.
Alport's syndrome
Von Gierke's disease
Hypertriglyceridemia
Vitamin E deficiency


45. 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
Leber's hereditary optic neuropathy
Hereditary nonpolyposis colorectal cancer
Familial hypercholesterolemia
Cystic fibrosis


46. Delayed wound healing - hypogonadism - dec. adult hair (axillary / facial / pubic); ?predispose to alcoholic cirrhosis?
Zinc deficiency
Angelman's syndrome
Neurofibromatosis type I (von Recklinghausen's disease)
Hyperchylomicronemia


47. 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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48. 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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49. 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
Velocardiofacial syndrome
Hereditary nonpolyposis colorectal cancer
Cri - du - chat syndrome
Krabbe's disease


50. Night blindness - dry skin
Vitamin A deficiency
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Vitamin C (ascorbic acid) deficiency
Hurler's syndrome