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. Aut - dom cell - signaling defect in fibroblast growth factor receptor 3 (FGFr3). Dwarfism: short limbs but head/trunk normal. A/W advanced paternal age
Vitamin B12 deficiency
Familial adenomatous polyposis coli
Achondroplasia
Chediak - Higashi syndrome


2. 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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3. 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.
Gaucher's disease
Galactokinase deficiency
Hereditary spherocytosis
von Hippel - Lindau disease


4. 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
Multiple endocrine neoplasias
Vitamin C (ascorbic acid) deficiency
Cri - du - chat syndrome


5. 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 hypercholesterolemia
Orotic aciduria
Vitamin C (ascorbic acid) deficiency
Folic acid deficiency


6. 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.
Krabbe's disease
Fructose intolerance
Hurler's syndrome
Down syndrome


7. Cheilosis - corneal vascularization (the 2 C's)
Edwards' syndrome
Vitamin B2 (riboflavin) deficiency
Dry beriberi
22q11 deletion syndromes


8. Inhibits lipoic acid (required for pyruvate dehydrogenase complex - pyruvate to acetyl - coA). Vomiting - rice water stools - garlic breath.
Arsenic toxicity
Vitamin K deficiency
Vitamin B2 (riboflavin) deficiency
G6PD deficiency


9. 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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10. 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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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
Velocardiofacial syndrome
Lesch - Nyhan Syndrome
Dry beriberi


12. 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
Pyruvate dehydrogenase deficiency
Osteogenesis imperfecta
APKD
Achondroplasia


13. A 22q11 deletion syndrome. Thymic - parathyroid - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
APKD
Ornithine transcarbamoylase (OTC) deficiency
DiGeorge syndrome
Ehlers - Danlos syndrome


14. 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
Ehlers - Danlos syndrome
Alport's syndrome
Von Gierke's disease
Neurofibromatosis type I (von Recklinghausen's disease)


15. 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 - '
DiGeorge syndrome
Fructose intolerance
Lactase deficiency
Abetalipoproteinemia


16. 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
Classic galactosemia
McArdle's disease
Adenosine deaminase deficiency
Homocystinuria


17. 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
Pyruvate dehydrogenase deficiency
Marasmus
Orotic aciduria
Neurofibromatosis type I (von Recklinghausen's disease)


18. 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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19. Hemolytic anemia (inc fragility of erythrocytes - vit E is antioxidant - protects erythrocytes / membranes from free - radical damage). Muscle weakness - neurodysfunction tooo.
Multiple endocrine neoplasias
Vitamin E deficiency
Fabry's disease
Zinc deficiency


20. 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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21. Night blindness - dry skin
Vitamin A deficiency
Marasmus
Biotin deficiency
Vitamin B5 deficiency


22. 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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23. Aut - dom; I/II/III - familial tumors of endocrine glands (pancreas - parathyroid - pituitary - thyroid - adrenal medulla). II / III a/w ret gene
Kartagener's syndrome
Hypertriglyceridemia
Multiple endocrine neoplasias
Vitamin B12 deficiency


24. 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
Hypertriglyceridemia
Hyperchylomicronemia
Familial hypercholesterolemia
Maple syrup urine disease


25. 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
Adenosine deaminase deficiency
Albinism
Becker's muscular dystrophy
McArdle's disease


26. Aut - dom; mutation of NF2 gene (chr 22: 'type 2 = 22'). Bilateral acoustic neuromas - juvenile cataracts.
Neurofibromatosis type II
Folic acid deficiency
Vitamin A deficiency
Edwards' syndrome


27. 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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28. B1 (thiamine) deficiency. Polyneuritis - symmetrical muscle wasting
Dry beriberi
Prader - Willi syndrome
Marfan's syndrome
Duchenne's muscular dystrophy


29. 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
G6PD deficiency
Pellagra
Cori's disease


30. 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
Familial adenomatous polyposis coli
Zinc deficiency
Orotic aciduria
Refsum disease


31. 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.
Vitamin B12 deficiency
Gaucher's disease
Fragile X
Hyperchylomicronemia


32. 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
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Adenosine deaminase deficiency
Fragile X
Lesch - Nyhan Syndrome


33. 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
Gaucher's disease
Ornithine transcarbamoylase (OTC) deficiency
McArdle's disease
Fructosouria


34. 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
Zinc deficiency
Vitamin D excess
Orotic aciduria
Down syndrome


35. A 22q11 deletion syndrome. Palate - facial - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Velocardiofacial syndrome
Krabbe's disease
Duchenne's muscular dystrophy
Tay- Sachs disease


36. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of arylsulfatase A - cerbroside sulfate accumulates. Central / peripheral demyelination - ataxia - dementia.
Lesch - Nyhan Syndrome
Adenosine deaminase deficiency
Vitamin B12 deficiency
Metachromic leukodystrophy


37. Hypercalcemia - hypercalciuria - loss of appetite - stupor. Seen in sarcoidosis (inc. activation of vitamin D by epithelioid macrophages).
Fructosouria
Neurofibromatosis type II
Pellagra
Vitamin D excess


38. 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
Tay- Sachs disease
Kwashiorkor
Pellagra


39. High output cardiac failure (dilated CM) - edema
Zellweger syndrome
Familial hypercholesterolemia
von Hippel - Lindau disease
Wet beriberi


40. 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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41. Mutation in mismatch repair genes (mismatched nucleotides in unmethylated / newly synthesized string recognized + removed)
Fragile X
Fructose intolerance
Cystinuria
Hereditary nonpolyposis colorectal cancer


42. Rare; from abx or excessive raw egg ingestion (avidin in whites binds biotin). Dermatitis - alopecia - enteritis. Biotin used in carboxylation enzymes.
Vitamin A deficiency
Vitamin D deficiency
Biotin deficiency
Lesch - Nyhan Syndrome


43. 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
Huntington's disease
Cri - du - chat syndrome
Hereditary spherocytosis


44. Microtubule polymerization defect (no lysosomal tracking). Decreased phagocytosis. Recurrent pyogenic infections - partial albinism - peripheral neuropathy.
Pyruvate dehydrogenase deficiency
Chediak - Higashi syndrome
Orotic aciduria
Vitamin C (ascorbic acid) deficiency


45. 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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46. Delayed wound healing - hypogonadism - dec. adult hair (axillary / facial / pubic); ?predispose to alcoholic cirrhosis?
Cystinuria
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Zinc deficiency
Familial hypercholesterolemia


47. (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!
Hereditary spherocytosis
Orotic aciduria
Pyruvate dehydrogenase deficiency
Multiple endocrine neoplasias


48. 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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49. 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.
Osteogenesis imperfecta
Biotin deficiency
Zellweger syndrome
Vitamin K deficiency


50. 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
Pyruvate dehydrogenase deficiency
Vitamin K deficiency
Marasmus
Homocystinuria