Biochemistry Unit 1 Diseases Disorders

Front 1

Hyperventilation

Back 1

Metabolic acidosis with compensatory respiratory alkalosis

Front 2

Renal Calculi

Back 2

renal rubular reabsorption disorder (cys, arg, lys, ornithine) Cystinuria

Front 3

Cystinuria

Back 3

Cysteine froms stones ->treat with increased fluids, decrease methionine

Front 4

Sickle Cell

Back 4

Hb Point Mutation, hemolysis, high bilirubin, hydration, O2, HbF sythesis

Front 5

Alzheimer's

Back 5

beta amyloid plaques created by proteolytic enxymes, loss of memory

Front 6

Methemoglobinemia

Back 6

Ferric instead of ferrous iron, reduced O2 binding

Front 7

Congenital Methemoglobinemia

Back 7

deficiency of cyt b5 reductase, NADPH, metHb reductase, Hb mutation, Tx: suppliment O2 and/or methylene blue

Front 8

Acquired Methemoglobinemia

Back 8

Chemically induced oxidation of ferrous iron due to chemicals, topical anesthetics, nitrites in well water, herbicides Tx: suppliment O2 and/or methylene blue

Front 9

CO Poisoning

Back 9

CO outcompetes for O2 binding sites, tissue anoxia (red), treat with hyperbaric O2

Front 10

HbA1c

Back 10

nonenxymatic glycosylation of HbA monitors long term levels with glucose homeostasis, levels over 8%

Front 11

Hyperventilation

Back 11

Decrease CO2, alkalosis, impaired functions

Front 12

Beri-Beri CAD

Back 12

Congestive heart failure due to acute thiamine deficiency, thiamine absorption inhibited by alcohol, treat with intravenous thiamine

Front 13

Organophosphates

Back 13

Irreversible inhibitor blocks acetylcholinesterase, Ach is not removed and muscle continues contraction, stomach pump, Atropine

Front 14

Hypertension

Back 14

treated with capropril ACE inhibitor to decrease fluid retention in kidneys

Front 15

Porphyrias

Back 15

Photosensitivity, defect in RBC heme enzymes, hepatic, drug induced, abdominal pain and neuro disturbances, treat with hemin to inhibit pathway

Front 16

Prehepatic Jaundice

Back 16

Build up of bilirubin, caused by hemolytic diseases, malaria, sickle cell, defect glycolysis, normal conjagated, increased unconjigated, Increased urobilinogen, stool and urine normal

Front 17

Hepatic Jaundice

Back 17

Caused by liver disease, cholestasis and decreased conjugation, high total bilirubin, dark urine, high AST/ALT

Front 18

Posthepatic Jaundice

Back 18

cholestasis, Dark urine, pale stools, elevated ALP, increased conjugated

Front 19

Crigler Najjar

Back 19

inability to conjugate bilirubin, treat with phenobarbatol (increases bilirubin conjugation)

Front 20

Gilbert's syndrome

Back 20

defect in bilirubin transport

Front 21

Iron Deficiency

Back 21

Caused by acute/chronic hemorrage, growth, pregnancy

Front 22

Hemosiderosis

Back 22

Iron uptake exceeds losses

Front 23

Hemochromatosis

Back 23

genetic disorder, bronze color, treatment is phlebotomy

Front 24

Secondary Hemosiderosis

Back 24

Caused from repeated transfusions, treatment is iron chelator

Front 25

Menke's kinky hair

Back 25

no membrane transport of Cu, growth and mental retardation, brittle hair

Front 26

Wilson's Disease

Back 26

Biliary excretion of Cu blocked, brain, liver effected, Kayser Fleischer

Front 27

VonWillebrand

Back 27

Autosomal dominant, reduced platelet and factor 8, uncontrolled bleeding, treated with fresh frozen plasma

Front 28

Hemophilia A

Back 28

x-linked recessive reduced quantites of factor 8, bleading in joints and soft tissue

Front 29

Hemophilia B

Back 29

x-linked recessive, reduced quantities of factor 9, bleeding into joints and soft tissue

Front 30

Factor 5 Leiden

Back 30

factor 5a resists inactivation by protein S/C, chronic clotting, treat with antithrombolytics

Front 31

Vit K Deficiency

Back 31

Poor fat digestion, decreased activation of factors 2,7,9,10 and protien C/S activation, first affected is 7

Front 32

Thrombocutopenia

Back 32

Viral, drug toxicity, low platelets, treat with whole blood, platelets, slenectomy

Front 33

Multiple Myeloma

Back 33

malignant plasma proliferation, SPEP gamma spike, Bence Jones

Front 34

Sphingolipid Storage Disease

Back 34

defective breakdown of lysosomes

Front 35

Tay-Sachs

Back 35

No hexosaminidase A, high Gm2 ganglioside, retarded and blindness

Front 36

Gauchers

Back 36

No beta-glucosidase, high glucosylceramide, high WBC hepatospleomegaly

Front 37

Neimann-Pick

Back 37

No sphingomyelinase, high spingomyelin

Front 38

L/S Ratio

Back 38

tests lung maturity for respiratory distress (lack of surfactant), ratio of pcholine to spingomyelin lowered

Front 39

Zellweger Syndrome

Back 39

inability to import peroxisome proteins, empty peroxisomes means death shortly after birth

Front 40

Glu 1

Back 40

Glucose transporter in RBC, basal glucose uptake, blood brain barrier

Front 41

Glu 2

Back 41

Glucose transporter in liver, kidney, intestines

Front 42

Glu 4

Back 42

Glucose transporter in skeletal/cardiac muscle and fat, Insulin induces expression of transport protein

Front 43

Glu 5

Back 43

Fructose transporter

Front 44

Cystic Fibrosis

Back 44

Phosphate gated Cl channel is locked open, dehydration

Front 45

Cholera

Back 45

Binds Gm1 ganglioside, causes diarrhea/dehydration

Front 46

Radaxin Absence

Back 46

cases deafness due to an absense in microvilli of inner ear

Front 47

Kartagener

Back 47

immotile cilia, molecular defect in dynein arms of cilia/flagella leads to upper respiratory infection, sinusitis, infertility

Front 48

Epidermolysis Bullosa

Back 48

Mutation of keratin basal epithelium leads to acute blistering

Front 49

Spherocystosis

Back 49

Mutated spectrin or ankyrin proteins, small round RBC lead to hemolytic anemia

Front 50

Duchennes Muscular Dystrophy

Back 50

Deletions of dystrophin gene leads to muscle weakening

Front 51

Scurvy

Back 51

Bleeding gums from a lack of collagen, Vitamin C (ascorbic acid) deficiancy leads to reduced hydroxylation.

Front 52

Osteogenesis Imperfecta

Back 52

Mutation of type 1 collagen, breaking of bones, skeletal deformaties, dwarfism

Front 53

Ehlers-danlos

Back 53

Collagen processing defect (cutis hyperplastica)