SUBJECTS
|
BROWSE
|
CAREER CENTER
|
POPULAR
|
JOIN
|
LOGIN
Business Skills
|
Soft Skills
|
Basic Literacy
|
Certifications
About
|
Help
|
Privacy
|
Terms
Search
Test your basic knowledge |
Biochemistry Diseases
Start Test
Study First
Subject
:
health-sciences
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. 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
Hereditary spherocytosis
Phenylketonuria
Hyperchylomicronemia
Dry beriberi
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.
3. B1 (thiamine) deficiency. Polyneuritis - symmetrical muscle wasting
Vitamin K deficiency
Cystinuria
Dry beriberi
G6PD deficiency
4. 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
Pellagra
Osteogenesis imperfecta
Cystic fibrosis
Ehlers - Danlos syndrome
5. 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)
Achondroplasia
Vitamin B12 deficiency
Neurofibromatosis type II
6. 'Bear liver'guy - arthralgias - fatigue - headaches - skin changes - sore throat - alopecia. Also teratogenic (cleft palate - cardiac abnormalities)
Neurofibromatosis type II
Hyperammonemia
Hypervitaminosis A
Neurofibromatosis type I (von Recklinghausen's disease)
7. 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)
8. 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
9. Cheilosis - corneal vascularization (the 2 C's)
Prader - Willi syndrome
Vitamin B2 (riboflavin) deficiency
Osteogenesis imperfecta
Kwashiorkor
10. Rare; from abx or excessive raw egg ingestion (avidin in whites binds biotin). Dermatitis - alopecia - enteritis. Biotin used in carboxylation enzymes.
Vitamin C (ascorbic acid) deficiency
Biotin deficiency
Orotic aciduria
Homocystinuria
11. 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
Prader - Willi syndrome
Alkaptonuria (ochronosis)
Multiple endocrine neoplasias
Maple syrup urine disease
12. Pantothenate; in CoA. Dermatitis - enteritis - alopecia - adrenal insufficiency
Cri - du - chat syndrome
Vitamin B5 deficiency
Alkaptonuria (ochronosis)
Albinism
13. A 22q11 deletion syndrome. Thymic - parathyroid - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
DiGeorge syndrome
Cori's disease
Hypervitaminosis A
22q11 deletion syndromes
14. Hypercalcemia - hypercalciuria - loss of appetite - stupor. Seen in sarcoidosis (inc. activation of vitamin D by epithelioid macrophages).
Adenosine deaminase deficiency
Vitamin D excess
Wet beriberi
Huntington's disease
15. X- linked mutated dystrophin. Less severe than Duchenne's. Onset: adolescence - early adulthood.
16. Energy malnutrition. Tissue / muscle wasting - loss of subQ fat - variable edema.
Familial hypercholesterolemia
Marasmus
Hereditary nonpolyposis colorectal cancer
Vitamin E deficiency
17. 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
18. Aut - rec deficiency of phenylalanine hydroxylase / THB (cofactor) - so can't convert phenylalanine to tyrosine. Results: accumulate phenylalanine (excess phenylketones in urine); tyrosine becomes essential AA. Dx: MR - growth retardation - seizures
Folic acid deficiency
Vitamin B5 deficiency
Phenylketonuria
Neurofibromatosis type I (von Recklinghausen's disease)
19. 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
Marfan's syndrome
Maple syrup urine disease
Fructose intolerance
Duchenne's muscular dystrophy
20. Type IV familial dyslipidemia. Hepatic overproduction of VLDL; VLDL increased; blood TGs elevated
Arsenic toxicity
Velocardiofacial syndrome
Hypertriglyceridemia
Alkaptonuria (ochronosis)
21. High output cardiac failure (dilated CM) - edema
Wet beriberi
22q11 deletion syndromes
Kwashiorkor
Phenylketonuria
22. 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
Chediak - Higashi syndrome
Cell disease
APKD
Kartagener's syndrome
23. 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
Edwards' syndrome
Osteogenesis imperfecta
Tuberous sclerosis
24. 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
Kwashiorkor
Duchenne's muscular dystrophy
Huntington's disease
25. (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
Krabbe's disease
Edwards' syndrome
Wet beriberi
26. 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
Leber's hereditary optic neuropathy
Cell disease
Cori's disease
Vitamin B2 (riboflavin) deficiency
27. A 22q11 deletion syndrome. Palate - facial - cardiac defects. Microdeletion at chr 22q11. Due to aberrant development of 3rd / 4th branchial pouches.
Vitamin B5 deficiency
Tay- Sachs disease
Velocardiofacial syndrome
McArdle's disease
28. 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
Pellagra
Tuberous sclerosis
Tay- Sachs disease
Classic galactosemia
29. 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
Lesch - Nyhan Syndrome
Hypertriglyceridemia
Vitamin C (ascorbic acid) deficiency
Adenosine deaminase deficiency
30. 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
Prader - Willi syndrome
Cri - du - chat syndrome
Ehlers - Danlos syndrome
Folic acid deficiency
31. 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
Hyperammonemia
Ehlers - Danlos syndrome
Von Gierke's disease
Hypophosphatemic rickets
32. 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
Classic galactosemia
Down syndrome
Cell disease
Familial adenomatous polyposis coli
33. Mutation in mismatch repair genes (mismatched nucleotides in unmethylated / newly synthesized string recognized + removed)
Hereditary nonpolyposis colorectal cancer
Pyruvate dehydrogenase deficiency
Adenosine deaminase deficiency
Hypervitaminosis A
34. Age dep or hereditary lactose intolerance (blacks / Asians); lose brush - border enzyme. Bloating - cramps - osmotic diarrhea. Avoid dairy / use lactase pills.
Fabry's disease
Lactase deficiency
Tuberous sclerosis
Tay- Sachs disease
35. 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
Zinc deficiency
Duchenne's muscular dystrophy
Vitamin C (ascorbic acid) deficiency
36. 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.
Familial hypercholesterolemia
Fragile X
Tuberous sclerosis
Classic galactosemia
37. Mitochondrial inheritance (only transmitted via mom); degeneration of retinal ganglion cells / axons; acute loss of central vision
38. Aut - rec fructokinase deficiency. Can't P- late fructose - so can't enter cells. Benign - asymptomatic - just fructose in blood - urine.
Fructosouria
Fructose intolerance
Xeroderma pigmentosum
Zinc deficiency
39. 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
Fragile X
Williams syndrome
Familial adenomatous polyposis coli
Down syndrome
40. 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).
Hyperchylomicronemia
Classic galactosemia
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Orotic aciduria
41. 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)
42. Aut - dom; disorder of blood vessels. Telangiectasia - recurrent epistaxis - skin discolorations - AVMs. Incr. in Utah Mormons
Pompe's disease
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Vitamin B6 deficiency
Vitamin B12 deficiency
43. 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
44. Aut - dom - defect in spectrin or ankyrin. Hemolytic anemia - increased MCHC (mean corpuscular hemoglobin concentration). Splenectomy is curative
Edwards' syndrome
Neurofibromatosis type I (von Recklinghausen's disease)
Vitamin D excess
Hereditary spherocytosis
45. 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.
46. 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
Ehlers - Danlos syndrome
Duchenne's muscular dystrophy
Homocystinuria
47. 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
22q11 deletion syndromes
Familial adenomatous polyposis coli
Leber's hereditary optic neuropathy
Albinism
48. 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.
Fabry's disease
Zellweger syndrome
Cori's disease
Prader - Willi syndrome
49. 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'
Marasmus
Tay- Sachs disease
Leber's hereditary optic neuropathy
Folic acid deficiency
50. 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
G6PD deficiency
Hypervitaminosis A
Arsenic toxicity
Gaucher's disease