Biochem Combined

Front 1

Bruton's agammablobulinemia (mutation, deficiency, excess, Sx, genetics)

Back 1

"Mutation: btk (tyrosine kinase)

Front 2

DiGeorge syndrome (deficiency, cause, Sx, genetics)

Back 2

"Deficiency: thymus glands (T-cells), parathyroid glands (PTH)

Front 3

SCID (X-linked)

Back 3

"Mutation: (3 types) IL-2 receptor, ADA, MHC II antigens

Back 4

Il-12 receptors, Th1 cell response

Front 5

hyper IgM syndrome (Defect, Sx, Ig labs)

Back 5

"Defect: CD40L on Th1 cells-->no class switching

Front 6

Wiskott-Aldrich (process, Sx, genetics, Ig labs)

Back 6

"Process: Progressive B and T cells destruction

Front 7

Job's syndrome/hyper IgE syndrome (Defect, Sx)

Back 7

"Defect: Chemotaxis. Low IFN-gamma production by Th1 cells-->no PMN response

Front 8

Leuckocyte adhesion deficiency type 1 (mutation, Sx)

Back 8

"Mutation: LFA-1 integrin subunit (CD18) on phagocytes

Front 9

Chediak-Higashi (defect, Sx, genetics)

Back 9

"Defect: Bad microtubules prevent phagolysosome formation

Front 10

chronic granulomatous disease

Back 10

NADPH oxidase defic-->defective microbicidal activity

Front 11

Chronic mucocutaneous candidiasis (defect, Sx)

Back 11

"Defect: T-cell dysfunction

Front 12

Selective Ig deficiency (defect, most common type, Sx)

Back 12

"Defect: problem w/ isotype switching --> deficiency in specific class of Ig's

Front 13

Ataxia-telangectasia (defect, Sx, labs)

Back 13

"Defect: DNA repair defic

Front 14

CVID (defect, Sx, age of onset)

Back 14

"Defect: B-cell maturation to plasma cells--> low Ig's

Front 15

Xeroderma pigmentosum (Defect, Sx/risk, Tx)

Back 15

"Defect: nucleotide excision repair --> inability to repair thymidine dimers caused by sun exposure

Front 16

HNPCC/Lynch Syndrome (Defect, Sx/risk/genetics/Dx)

Back 16

"Defect: mismatch repair

Front 17

I-cell disease (type, defect, buildup, Sx, labs)

Back 17

"Type: Lysosomal storage disorder

Front 18

Kartagener's syndrome (defect, Sx, ass'd with)

Back 18

"Defect: dynein mutation --> fucked up cilia

Front 19

Ehlers-Danlos (defect, Sx, genetics)

Back 19

"Defect: Collagen (usually III) synthesis/processing (multiple types)

Front 20

Osteogenesis imperfecta (defect, Sx, genetics)

Back 20

"Defect: Abnormal collagen (type I, type II fatal in utero)

Front 21

Alport's (defect, Sx, genetics)

Back 21

"Defect: Type IV collagen (basement membranes)

Front 22

Marfan's syndrome (defect, Sx, genetics)

Back 22

"Defect: fibrillin

Front 23

Prader-Willi syndrome (defect, Sx, genetics)

Back 23

"Defect/genetics: Genetic imprinting. Deletion of normally active paternal allele (ch15 - maternal allele methylated)

Front 24

Angelman's syndrome (defect, Sx, genetics

Back 24

"Defect/genetics: Genetic imprinting. Deletion of normally active maternal allele (ch15 - paternal allele methylated)

Front 25

Hypophosphatemic rickets (defect, Sx, genetics)

Back 25

"Defect: Increased phosphate wasting at proximal tubule.

Front 26

Leber's hereditary optic neuropathy (defect, Sx, genetics)

Back 26

"Defect: Degeneration of retinal ganglion cells

Front 27

Achondroplasia (defect, Sx, genetics, ass'd with)

Back 27

"Defect: FGF3 receptor

Front 28

APKD (defect, Sx, genetics)

Back 28

"Defect: APKD1 (ch16) '16 letters in polycystic kidney'

Front 29

FAP (Defect, Sx, genetics)

Back 29

"Defect: APC gene (ch5) '5 letters in polyp'

Front 30

Familial hypercholesterolemia/hyperlipidemia IIA (defect, Sx, genetics)

Back 30

"Defect: LDL receptor

Front 31

Hereditary homorrhagic telangectasia/Osler-Weber-Rendu (defect, Sx, genetics)

Back 31

"Defect: Blood vessels

Front 32

Hereditary spherocytosis (defect, Sx, genetics, Tx)

Back 32

"Defect: ankyrin or spectrin --> spheroid RBCs

Front 33

Huntington's Disease (defect, Sx, brain findings, genetics)

Back 33

"Defect: CAG repeats (ch4) 'Hunting 4 food'

Front 34

MEN1 (Sx, genetics)

Back 34

"Sx: Parathyroid, Pituitary, Pancreatic neoplasias

Front 35

MEN2 A (mutation, Sx, genetics)

Back 35

"Mutation: ret oncogene

Front 36

MEN2 B (mutation, Sx, genetics)

Back 36

"Mutation: ret oncogene

Front 37

NF1/von Recklinghausen's (mutation, Sx, genetics)

Back 37

"Mutation: n-myc (ch17q '17 letters in von Recklinghausen')

Front 38

NF2 (mutation, Sx, genetics)

Back 38

"Mutation: NF2 gene (ch22 - all '2s')

Front 39

Tuberous sclerosis (Sx, genetics)

Back 39

"Sx: facial lesions (adenoma sebaceum), ash-leaf spots, cortical/retinal hamartomas, seizures, mental retardation, renal cysts, renal angiomyolipomas, cardiac rhabdomyomas, increased incidence of astrocytomas

Front 40

von Hippel-Lindau (mutation, Sx, genetics)

Back 40

"Mutation: VHL tumor suppressor gene (ch 2p) --> constitutive activation of HIF --> activation of angiogenic growth factors.

Front 41

Cystic fibrosis (mutation, Sx, genetics)

Back 41

"Mutation: CFTR gene on ch 7; deletion of Phe 508--> no Cl secretion in lungs, GI tract, no reabsorbtion from sweat

Front 42

Duchenne's muscular dystrophy (mutation, Sx, genetics)

Back 42

"Defect: dystrophin gene nonsense deletion --> muscle breakdown

Front 43

Becker's muscular dystrophy (mutation, Sx, genetics)

Back 43

"Mutation: mutated dystrophin gene

Front 44

fragile X syndrome (mutation, Sx, genetics)

Back 44

"Mutation: methylation of FMR1 gene, CGG nucleotide repeat disorder

Front 45

Down's syndrome (genetics, Sx, ass'd with, labs)

Back 45

"Genetics: trisomy 21 (maternal meiotic nondysjunction); unbalanced Robertsonian translocation (14:21, 22:21)

Front 46

Edward's syndrome (genetics, Sx)

Back 46

"Genetics: trisomy 18

Front 47

Patau's syndrome (genetics, Sx)

Back 47

"Genetics: trisomy 13

Front 48

Cri-du-chat (genetics, Sx)

Back 48

"Mutation: Deletion of 5p

Front 49

Williams syndrome (genetics, Sx)

Back 49

"Mutation: microdeletion on 7q (including elastin gene)

Front 50

CATCH-22 (genetics, mnemonic, diseases)

Back 50

"Genetics: 22q11 deletion-->no 3rd and 4th branchial pouch development

Front 51

Vitamin A deficiency (Sx, causes)

Back 51

"Sx: Night blindness, dry skin

Front 52

Vit A excess (Sx, causes)

Back 52

"Sx: teratogenic! Clet palate, cardiac. Arthralgias, fatigue, skin changes, alopecia

Front 53

Vit B1 Deficiency (aka, deficiency, Sx, causes)

Back 53

"Aka: Thiamine

Front 54

Wet beriberi (deficiency, Sx)

Back 54

"Deficiency: thiamine (B1)

Front 55

Dry beriberi (deficiency, Sx)

Back 55

"Deficiency: thiamine (B1)

Front 56

Wernicke's (deficiency, Sx)

Back 56

"Deficiency: thiamine (B1)

Front 57

Korsakoff's (deficiency, Sx)

Back 57

"Deficiency: thiamine (B1)

Front 58

Vit B2 deficiency (aka, deficiency, Sx)

Back 58

"Aka: Riboflavin

Front 59

Vit B3 deficiency (deficiency, Sx, causes)

Back 59

"Aka: Niacin, nicotinic acid

Front 60

Vit B5 deficiency (aka, deficiency, Sx)

Back 60

"Aka: PanthenoAte

Front 61

Vit B6 deficiency (aka, deficiency, Sx, causes)

Back 61

"Aka: pyridoxine

Front 62

Vit B12 deficicency (aka, deficiency, Sx, causes)

Back 62

"Aka: cobalamin

Front 63

Folic acid deficiency (Sx, causes)

Back 63

"Sx: Megaloblastic anemia, neural tube defects

Front 64

Biotin deficiency

Back 64

"Deficiency: Carboxylation: pyruvate carboxylase (pyruvate --> oxaloacetate); acetyl CoA carboxylase (acetyl CoA --> malonyl CoA); proprionyl CoA carboxylase (propionyl CoA --> methlmalonyl CoA)

Front 65

Vit C deficiency (aka, deficiency, Sx)

Back 65

"Aka: ascorbic acid

Front 66

Vit D deficiency (fxn, Sx, causes)

Back 66

"Fxn: GUT: Ca and phos absorption; BONE: resorption (high Ca)

Front 67

Vit D excess (fxn, Sx, causes, pathophys)

Back 67

"Fxn: GUT: Ca and phos absorption; BONE: resorption (high Ca)

Front 68

Vit E deficiency (fxn, Sx)

Back 68

"Fxn: Antioxidant protecting erythrocytes and membranes

Front 69

Vit K deficiency (fxn, Sx, causes)

Back 69

"Fxn: Carboxylates clotting factors. Synth'd in gut flora.

Front 70

Zinc deficiency (fxn, Sx)

Back 70

"Fxn: enzyme cofactor, zync finers (transcription factor motif)

Front 71

EtOH excess (biochem, Sx)

Back 71

"Relative NAD deficiency (too much NADH) because EtOH dehydrogenase (EtOH to acetaldehyde) and acetaldehyde dehydrogenase (acetaldehyde to acetate) both produce NADH.

Front 72

Pyruvate dehydrogenase complex deficiency (Biochem, cofactors, pathophys, Sx, Tx)

Back 72

"Biochem: converts pyruvate to aceytl CoA - links glycolysis to TCA

Front 73

Fructose intolerance (deficiency/biochem, Sx, Tx, genetics)

Back 73

"Deficiency: Aldolase B; no Fructose-1p --> DHAP and G3P, phosphate trapping --> inhibits glucose formation (glycogenolysis, gluconeogenesis)

Front 74

Essential fructosuria (deficiency/biochem, Sx, genetics)

Back 74

"Deficiency: fructokinase (fructose --> fructose-1P).

Front 75

Classic galactosemia (deficiency/biochem, Sx, Tx, genetics)

Back 75

"Deficiency: Galactose-1P uridyltransferase (no galactose-1P --> glucose-1P. Backup of galactose-1P --> galactose --> galactctitol (aldose reductase from), which accumulates in lens. Also other toxic backup, making it worse than galactokinase deficiency.

Front 76

Galactokinase deficiency (deficiency/biochem, Sx, Tx, genetics)

Back 76

"Deficiency: Galactokinase. No Galactose --> galactose-1P. Galactitol (reduced galactose) accumulation -->...

Front 77

Lactase deficiency (deficiency, Sx, Tx)

Back 77

"Deficiency: Lactase (brush border enzyme, dissacharidase)

Front 78

Hyperammonemia (biochem, Sx, causes)

Back 78

"Excess: NH4 (depletes alpha-KG--> inhibits TCA)

Front 79

Orntithine transcarbamoylase deficiency - MOST COMMON urea cycle disorder (backup/accumulation, Sx, genetics)

Back 79

"Deficiency: OTC. Carbomoyl phosphate backup --> orotic acid

Front 80

Phenylketonuria (deficiency, Sx, genetics)

Back 80

"Deficiency: phenylalanine hydroxylase or tetrahydrabiopterin cofactor (no Phe --> Tyr) --> phenalketones in urine

Front 81

Alkoptonuria/Onchronosis (deficiency/accumulation, Sx, genetics)

Back 81

"Deficiency: homogentisic acid oxidase, so no breakdown of Tyr --> fumarate. 'Opposite' of PKU. Homogentisic acid backup.

Front 82

Albinism (deficiency, genetics)

Back 82

"Deficiency: Tyrosinase or tyrosine txport --> no tyrosine to make melanin

Front 83

Homocystinuria (3 deficiencies, Sx, genetics, Tx)

Back 83

"Deficiency: 1. Cystathione synthase. No homocysterine --> cystathione (-->cysteine). 2. Low affinity for B6 (pyridoxal phosphate) cofactor. 3. Homocysteine methyltransferase (no homocysteine --> methionine).

Front 84

Cystinuria (defect, Sx, genetics, Tx)

Back 84

"Defective: PCT amino acid transporter (cyteine, ornithine, lysine, arginine)

Front 85

Maple syrup urine (deficiency/biochem, Sx, genetics)

Back 85

"Deficiency: alpha-ketoacide dehydrogenase --> can't degrade branched aa's (I, L, V) --> ketoacids in the blood, esp Leu.

Front 86

ADA deficiency (ADA-SCID) (Deficiency/biochem,

Back 86

"Deficiency: Adenosine deaminase (purine salvage pathway)

Front 87

Lesch-Nyhan (deficiency, Sx, genetics)

Back 87

"Deficiency: Purine salvage pathway. No HGPRT

Front 88

Orotic aciduria (deficiency, Sx, Tx, genetics)

Back 88

"Defciency: De novo pyrimidine synthesis. Can't convert orotic acid to UMP (orotic acid phophoribosyltransferase or orotidine 5'-phosphate decarboxylase)

Front 89

Von Gierke's/GSD type I

Back 89

"Deficiency: glucose-6-phosphatase

Front 90

Pompe's disease/GSD type II

Back 90

"Deficiency: lysosomal a-1,4-glucosidase

Front 91

Cori's disease/GSD type III

Back 91

"Deficiency: alpha 1,6-glucosidase (debranching enzyme)

Front 92

McArdle's disease/GSD type V

Back 92

"Deficiency: Skeletal muscle glycogen phosphorylase