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 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
Angelman's syndrome
Lesch - Nyhan Syndrome
Vitamin A deficiency
Zinc deficiency


2. Delayed wound healing - hypogonadism - dec. adult hair (axillary / facial / pubic); ?predispose to alcoholic cirrhosis?
Zinc deficiency
Familial hypercholesterolemia
Fructose intolerance
Homocystinuria


3. 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
Metachromic leukodystrophy
Hypertriglyceridemia
Down syndrome
Familial hypercholesterolemia


4. 'Bear liver'guy - arthralgias - fatigue - headaches - skin changes - sore throat - alopecia. Also teratogenic (cleft palate - cardiac abnormalities)
Pompe's disease
Hypervitaminosis A
Vitamin B5 deficiency
Arsenic toxicity


5. Aut - dom; I/II/III - familial tumors of endocrine glands (pancreas - parathyroid - pituitary - thyroid - adrenal medulla). II / III a/w ret gene
Familial hypercholesterolemia
Angelman's syndrome
Hyperchylomicronemia
Multiple endocrine neoplasias


6. 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
Vitamin B6 deficiency
Becker's muscular dystrophy
APKD
Tuberous sclerosis


7. 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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8. 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
Tay- Sachs disease
Vitamin D excess
Duchenne's muscular dystrophy


9. 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
Biotin deficiency
Phenylketonuria
Adenosine deaminase deficiency
Achondroplasia


10. 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 - '
Neurofibromatosis type I (von Recklinghausen's disease)
Cell disease
Abetalipoproteinemia
Edwards' syndrome


11. Peroxisomal disease; no alpha - oxidation of branched - chain FA like phytanic acid. Neuro sx; Tx = avoid chlorophyll
Lesch - Nyhan Syndrome
Vitamin C (ascorbic acid) deficiency
Ehlers - Danlos syndrome
Refsum disease


12. 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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13. Bleeds (gamma - carboxylation of glutamic acid residues on factors II - VII - IX - X - protein C - S). Neonatal hemorrhage (inc PT - aPTT - normal bleeding time - sterile intestine in newborn - can't synthesize vitK - synthesized by intestinal flora
Ornithine transcarbamoylase (OTC) deficiency
Gaucher's disease
Pompe's disease
Vitamin K deficiency


14. Aut - dom - defect in spectrin or ankyrin. Hemolytic anemia - increased MCHC (mean corpuscular hemoglobin concentration). Splenectomy is curative
Galactokinase deficiency
Alkaptonuria (ochronosis)
Metachromic leukodystrophy
Hereditary spherocytosis


15. Aut - rec deficiency of homogentisic acid oxidase (degradative pathway of tyrosine) - benign disease. Dark connective tissue - pigmented sclera - urine turnes black on standing - may have debilitating arthralgias.
Pompe's disease
Vitamin E deficiency
Alkaptonuria (ochronosis)
DiGeorge syndrome


16. 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
Zinc deficiency
Galactokinase deficiency
Vitamin B6 deficiency
Neurofibromatosis type I (von Recklinghausen's disease)


17. Trisomy 18 (E=election age) - 1:8000. Severe MR - rockerbottom feet - congenital heart disease. Vs Patau's: micrognathia - low - set ears - clenched hands - prominent occiput. Death w/in 1 yr

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18. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of arylsulfatase A - cerbroside sulfate accumulates. Central / peripheral demyelination - ataxia - dementia.
Dry beriberi
Angelman's syndrome
Metachromic leukodystrophy
Arsenic toxicity


19. Hemolytic anemia (inc fragility of erythrocytes - vit E is antioxidant - protects erythrocytes / membranes from free - radical damage). Muscle weakness - neurodysfunction tooo.
Hereditary nonpolyposis colorectal cancer
Vitamin E deficiency
Kwashiorkor
Hypertriglyceridemia


20. 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
Gaucher's disease
Familial adenomatous polyposis coli
Duchenne's muscular dystrophy
Pompe's disease


21. 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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22. 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
Hereditary nonpolyposis colorectal cancer
Hypervitaminosis A
Angelman's syndrome
Vitamin C (ascorbic acid) deficiency


23. Night blindness - dry skin
Pompe's disease
Vitamin A deficiency
Pyruvate dehydrogenase deficiency
Hurler's syndrome


24. 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
Osteogenesis imperfecta
Hyperammonemia
APKD
Marfan's syndrome


25. 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
Tuberous sclerosis
Albinism
Osteogenesis imperfecta
Wet beriberi


26. 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
Familial hypercholesterolemia
Velocardiofacial syndrome
Refsum disease
Albinism


27. Lysosomal storage disease (a sphingolipidosis). Aut - rec deficiency of sphingomyelinase; sphingomyelin accumulates. Progressive neurodegeneration - hepatosplenomegaly - cherry- red spot on macula - foam cells.
22q11 deletion syndromes
Niemann - Pick disease
Ehlers - Danlos syndrome
Williams syndrome


28. 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
Hurler's syndrome
Niemann - Pick disease
Hereditary nonpolyposis colorectal cancer
Homocystinuria


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
Zinc deficiency
Adenosine deaminase deficiency
Zellweger syndrome
Pompe's disease


30. Aut - rec fructokinase deficiency. Can't P- late fructose - so can't enter cells. Benign - asymptomatic - just fructose in blood - urine.
Cri - du - chat syndrome
Fructosouria
Familial hypercholesterolemia
Niemann - Pick disease


31. 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
Vitamin D excess
von Hippel - Lindau disease
Vitamin B3 excess


32. B1 (thiamine) deficiency. Polyneuritis - symmetrical muscle wasting
Fabry's disease
Metachromic leukodystrophy
Dry beriberi
Cri - du - chat syndrome


33. 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
Marfan's syndrome
Vitamin C (ascorbic acid) deficiency
Vitamin A deficiency


34. 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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35. 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.
Ornithine transcarbamoylase (OTC) deficiency
Fructose intolerance
Vitamin K deficiency
Achondroplasia


36. 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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37. 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
Fructosouria
Osteogenesis imperfecta
Hereditary spherocytosis
Down syndrome


38. 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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39. 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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40. Facial flushing (niacin 'flushing' in pharm doses for hyperlipidemia treatment).
Vitamin B3 excess
Tuberous sclerosis
Hyperammonemia
Vitamin D excess


41. 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
Alport's syndrome
Vitamin B5 deficiency
Familial adenomatous polyposis coli
Folic acid deficiency


42. 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
Xeroderma pigmentosum
Vitamin B3 excess
Ornithine transcarbamoylase (OTC) deficiency


43. 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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44. 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
Kwashiorkor
Vitamin E deficiency
Hypertriglyceridemia


45. 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
Phenylketonuria
Pellagra
Hereditary spherocytosis
Lactase deficiency


46. Rickets in children (bending bones); osteomalacia in adults (soft bones). Also hypocalcemic tetany.
Vitamin B3 excess
Pellagra
Vitamin D deficiency
Hereditary hemorrhagic telangiectasia (Osler - Weber - Rendu syndrome)


47. Type IIa familial dyslipidemia. Aut - dom absence / decrease in LDL receptors. LDLs increased - blood cholesterol elevated.
Familial hypercholesterolemia
Neurofibromatosis type I (von Recklinghausen's disease)
Fragile X
Hypervitaminosis A


48. Rare; from abx or excessive raw egg ingestion (avidin in whites binds biotin). Dermatitis - alopecia - enteritis. Biotin used in carboxylation enzymes.
Marasmus
Biotin deficiency
Pyruvate dehydrogenase deficiency
Vitamin B5 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
Vitamin E deficiency
Marfan's syndrome
Dry beriberi


50. Energy malnutrition. Tissue / muscle wasting - loss of subQ fat - variable edema.
Folic acid deficiency
Xeroderma pigmentosum
Marasmus
Becker's muscular dystrophy