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. 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
Vitamin A deficiency
Maple syrup urine disease
Ornithine transcarbamoylase (OTC) deficiency
Alkaptonuria (ochronosis)


2. Aut - dom; disorder of blood vessels. Telangiectasia - recurrent epistaxis - skin discolorations - AVMs. Incr. in Utah Mormons
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)
Lactase deficiency
Niemann - Pick disease
APKD


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


4. 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.
Hyperchylomicronemia
Angelman's syndrome
Zellweger syndrome
Hypophosphatemic rickets


5. 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
Adenosine deaminase deficiency
Zinc deficiency
Lesch - Nyhan Syndrome
Familial hypercholesterolemia


6. Hypercalcemia - hypercalciuria - loss of appetite - stupor. Seen in sarcoidosis (inc. activation of vitamin D by epithelioid macrophages).
Vitamin C (ascorbic acid) deficiency
Hypophosphatemic rickets
Vitamin D excess
Neurofibromatosis type I (von Recklinghausen's disease)


7. (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!
Familial hypercholesterolemia
Pyruvate dehydrogenase deficiency
Biotin deficiency
Down syndrome


8. 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
Osteogenesis imperfecta
Vitamin D deficiency
Tuberous sclerosis
Leber's hereditary optic neuropathy


9. High output cardiac failure (dilated CM) - edema
Duchenne's muscular dystrophy
Fructose intolerance
Patau's syndrome
Wet beriberi


10. Night blindness - dry skin
Prader - Willi syndrome
Vitamin A deficiency
Phenylketonuria
Maple syrup urine disease


11. 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 A deficiency
Hypervitaminosis A
Albinism
Achondroplasia


12. 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
Vitamin B3 excess
Marfan's syndrome
Galactokinase deficiency


13. 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
Phenylketonuria
von Hippel - Lindau disease
Kwashiorkor
Folic acid deficiency


14. 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
Zellweger syndrome
Familial adenomatous polyposis coli
Fragile X
Familial hypercholesterolemia


15. 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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16. 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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17. Aut - rec fructokinase deficiency. Can't P- late fructose - so can't enter cells. Benign - asymptomatic - just fructose in blood - urine.
Biotin deficiency
Leber's hereditary optic neuropathy
Fructosouria
Alkaptonuria (ochronosis)


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

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19. Age dep or hereditary lactose intolerance (blacks / Asians); lose brush - border enzyme. Bloating - cramps - osmotic diarrhea. Avoid dairy / use lactase pills.
Lactase deficiency
Albinism
Hyperammonemia
Cell disease


20. 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
Albinism
Gaucher's disease
Familial adenomatous polyposis coli
Homocystinuria


21. 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
Phenylketonuria
Von Gierke's disease
Familial hypercholesterolemia


22. 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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23. 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
Alkaptonuria (ochronosis)
Dry beriberi
Phenylketonuria
Kwashiorkor


24. Aut - dom; I/II/III - familial tumors of endocrine glands (pancreas - parathyroid - pituitary - thyroid - adrenal medulla). II / III a/w ret gene
Multiple endocrine neoplasias
Pellagra
Edwards' syndrome
Pompe's disease


25. Hemolytic anemia (inc fragility of erythrocytes - vit E is antioxidant - protects erythrocytes / membranes from free - radical damage). Muscle weakness - neurodysfunction tooo.
Vitamin E deficiency
DiGeorge syndrome
Gaucher's disease
Pellagra


26. B1 (thiamine) deficiency. Polyneuritis - symmetrical muscle wasting
Dry beriberi
Hypertriglyceridemia
Leber's hereditary optic neuropathy
Refsum disease


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
Classic galactosemia
Adenosine deaminase deficiency
Dry beriberi
Duchenne's muscular dystrophy


28. Delayed wound healing - hypogonadism - dec. adult hair (axillary / facial / pubic); ?predispose to alcoholic cirrhosis?
Vitamin B5 deficiency
Zinc deficiency
Lactase deficiency
Dry beriberi


29. 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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30. 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
22q11 deletion syndromes
McArdle's disease
Vitamin C (ascorbic acid) deficiency
Patau's syndrome


31. 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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32. 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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33. Protein malnutrition. Skin lesions - edema - liver malfunction (fatty change). Small child - swollen belly.
Fructosouria
Folic acid deficiency
Vitamin B6 deficiency
Kwashiorkor


34. 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
22q11 deletion syndromes
Ehlers - Danlos syndrome
Lactase deficiency
Folic acid deficiency


35. 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
Folic acid deficiency
Hyperammonemia
Hypophosphatemic rickets
Wet beriberi


36. Lysosomal alpha -1 -4- glucosidase (acid maltase) deficiency (type II glycogen storage disease. Lysosomal degradation of glycogen impaired (1 -4 = linkages - not branches). Cardiomegaly - systemic findings (liver - muscle) leading to early death. Pom

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37. 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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38. Rickets in children (bending bones); osteomalacia in adults (soft bones). Also hypocalcemic tetany.
Vitamin D deficiency
Pyruvate dehydrogenase deficiency
Niemann - Pick disease
Ornithine transcarbamoylase (OTC) deficiency


39. Microtubule polymerization defect (no lysosomal tracking). Decreased phagocytosis. Recurrent pyogenic infections - partial albinism - peripheral neuropathy.
Abetalipoproteinemia
Prader - Willi syndrome
Chediak - Higashi syndrome
Hunter's syndrome


40. Rare; from abx or excessive raw egg ingestion (avidin in whites binds biotin). Dermatitis - alopecia - enteritis. Biotin used in carboxylation enzymes.
Biotin deficiency
Xeroderma pigmentosum
Osteogenesis imperfecta
Vitamin B6 deficiency


41. 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
Edwards' syndrome
Fructosouria
Cystic fibrosis


42. 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
Hyperchylomicronemia
Vitamin B12 deficiency
Pellagra
G6PD deficiency


43. 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
Vitamin B2 (riboflavin) deficiency
Chediak - Higashi syndrome
Duchenne's muscular dystrophy


44. 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
Albinism
Kwashiorkor
Duchenne's muscular dystrophy
Maple syrup urine disease


45. 'Bear liver'guy - arthralgias - fatigue - headaches - skin changes - sore throat - alopecia. Also teratogenic (cleft palate - cardiac abnormalities)
Hypervitaminosis A
Vitamin D excess
Cell disease
Pompe's disease


46. 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
Abetalipoproteinemia
Hereditary nonpolyposis colorectal cancer
Cystic fibrosis
Niemann - Pick disease


47. 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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48. 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 excess
Abetalipoproteinemia
Velocardiofacial syndrome
Williams syndrome


49. 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
Becker's muscular dystrophy
Orotic aciduria
Pellagra
Lesch - Nyhan Syndrome


50. Mutation in mismatch repair genes (mismatched nucleotides in unmethylated / newly synthesized string recognized + removed)
Neurofibromatosis type I (von Recklinghausen's disease)
Phenylketonuria
Refsum disease
Hereditary nonpolyposis colorectal cancer