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Test your basic knowledge |
Biochemistry Diseases
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Study First
Subject
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health-sciences
Instructions:
Answer 50 questions in 15 minutes.
If you are not ready to take this test, you can
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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. 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
Albinism
Chediak - Higashi syndrome
Alkaptonuria (ochronosis)
2. 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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3. 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
Albinism
Hyperchylomicronemia
Gaucher's disease
Patau's syndrome
4. 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
Becker's muscular dystrophy
Neurofibromatosis type I (von Recklinghausen's disease)
APKD
Vitamin C (ascorbic acid) deficiency
5. (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!
Albinism
Pyruvate dehydrogenase deficiency
Fructosouria
Velocardiofacial syndrome
6. 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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7. 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.
McArdle's disease
Galactokinase deficiency
Biotin deficiency
Marfan's syndrome
8. 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
Orotic aciduria
Homocystinuria
Lesch - Nyhan Syndrome
Duchenne's muscular dystrophy
9. Night blindness - dry skin
Vitamin A deficiency
Chediak - Higashi syndrome
Duchenne's muscular dystrophy
Leber's hereditary optic neuropathy
10. 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
Becker's muscular dystrophy
G6PD deficiency
Vitamin B6 deficiency
Classic galactosemia
11. 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.
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12. Hemolytic anemia (inc fragility of erythrocytes - vit E is antioxidant - protects erythrocytes / membranes from free - radical damage). Muscle weakness - neurodysfunction tooo.
Hypophosphatemic rickets
Neurofibromatosis type I (von Recklinghausen's disease)
Prader - Willi syndrome
Vitamin E deficiency
13. 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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14. 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
Familial adenomatous polyposis coli
Pellagra
Vitamin A deficiency
Velocardiofacial syndrome
15. 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
Alport's syndrome
Albinism
Vitamin B5 deficiency
22q11 deletion syndromes
16. 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
Familial hypercholesterolemia
Vitamin B6 deficiency
Tuberous sclerosis
Homocystinuria
17. High output cardiac failure (dilated CM) - edema
Metachromic leukodystrophy
Lactase deficiency
Familial hypercholesterolemia
Wet beriberi
18. 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
Folic acid deficiency
Osteogenesis imperfecta
Albinism
Vitamin D excess
19. B1 (thiamine) deficiency. Polyneuritis - symmetrical muscle wasting
Lesch - Nyhan Syndrome
Dry beriberi
Hyperchylomicronemia
Achondroplasia
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. Energy malnutrition. Tissue / muscle wasting - loss of subQ fat - variable edema.
Marasmus
Xeroderma pigmentosum
Chediak - Higashi syndrome
Hereditary nonpolyposis colorectal cancer
22. 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).
Cri - du - chat syndrome
Leber's hereditary optic neuropathy
Classic galactosemia
APKD
23. 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
Marasmus
Folic acid deficiency
Cori's disease
Alport's syndrome
24. 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
von Hippel - Lindau disease
Tuberous sclerosis
Niemann - Pick disease
Vitamin B6 deficiency
25. 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
Adenosine deaminase deficiency
Hunter's syndrome
Lesch - Nyhan Syndrome
Tuberous sclerosis
26. Rickets in children (bending bones); osteomalacia in adults (soft bones). Also hypocalcemic tetany.
Maple syrup urine disease
Vitamin D deficiency
Velocardiofacial syndrome
Kwashiorkor
27. Aut - dom; disorder of blood vessels. Telangiectasia - recurrent epistaxis - skin discolorations - AVMs. Incr. in Utah Mormons
Cori's disease
Hypertriglyceridemia
Vitamin D excess
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
28. Microtubule polymerization defect (no lysosomal tracking). Decreased phagocytosis. Recurrent pyogenic infections - partial albinism - peripheral neuropathy.
Chediak - Higashi syndrome
Hurler's syndrome
Lactase deficiency
Familial hypercholesterolemia
29. Type IV familial dyslipidemia. Hepatic overproduction of VLDL; VLDL increased; blood TGs elevated
Ornithine transcarbamoylase (OTC) deficiency
Hurler's syndrome
Albinism
Hypertriglyceridemia
30. Mitochondrial inheritance (only transmitted via mom); degeneration of retinal ganglion cells / axons; acute loss of central vision
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31. 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
Chediak - Higashi syndrome
Ornithine transcarbamoylase (OTC) deficiency
Duchenne's muscular dystrophy
Marfan's syndrome
32. 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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33. Pantothenate; in CoA. Dermatitis - enteritis - alopecia - adrenal insufficiency
Vitamin B5 deficiency
Pellagra
Alport's syndrome
Metachromic leukodystrophy
34. Cheilosis - corneal vascularization (the 2 C's)
Vitamin K deficiency
Vitamin B2 (riboflavin) deficiency
Dry beriberi
Edwards' syndrome
35. 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'
Fructosouria
Tay- Sachs disease
Multiple endocrine neoplasias
Hyperchylomicronemia
36. 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
Fragile X
Hypophosphatemic rickets
Kartagener's syndrome
Familial adenomatous polyposis coli
37. 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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38. 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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39. 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
Familial adenomatous polyposis coli
Down syndrome
Prader - Willi syndrome
Kartagener's syndrome
40. 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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41. Facial flushing (niacin 'flushing' in pharm doses for hyperlipidemia treatment).
Vitamin B3 excess
Cri - du - chat syndrome
von Hippel - Lindau disease
Huntington's disease
42. Hypercalcemia - hypercalciuria - loss of appetite - stupor. Seen in sarcoidosis (inc. activation of vitamin D by epithelioid macrophages).
Folic acid deficiency
Vitamin D excess
McArdle's disease
Down syndrome
43. 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
Kartagener's syndrome
Niemann - Pick disease
Williams syndrome
Vitamin B6 deficiency
44. 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
Hereditary nonpolyposis colorectal cancer
Angelman's syndrome
Hyperammonemia
45. 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
Ornithine transcarbamoylase (OTC) deficiency
Kwashiorkor
Biotin deficiency
46. 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.
Pompe's disease
Fructose intolerance
Abetalipoproteinemia
Vitamin E deficiency
47. Aut - dom - defect in spectrin or ankyrin. Hemolytic anemia - increased MCHC (mean corpuscular hemoglobin concentration). Splenectomy is curative
Cori's disease
APKD
Hereditary spherocytosis
22q11 deletion syndromes
48. Protein malnutrition. Skin lesions - edema - liver malfunction (fatty change). Small child - swollen belly.
Fragile X
Kwashiorkor
Hypertriglyceridemia
Zinc deficiency
49. Aut - dom cell - signaling defect in fibroblast growth factor receptor 3 (FGFr3). Dwarfism: short limbs but head/trunk normal. A/W advanced paternal age
Achondroplasia
Fragile X
Vitamin K deficiency
Vitamin D deficiency
50. Aut - dom; I/II/III - familial tumors of endocrine glands (pancreas - parathyroid - pituitary - thyroid - adrenal medulla). II / III a/w ret gene
Hereditary spherocytosis
Biotin deficiency
Lactase deficiency
Multiple endocrine neoplasias