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Flashcards in Etc. Deck (31):
1

Metal Ion Cofactors (Cu, Fe, Mg, Se, Zn)

Cu: cytochrome c oxidase
Fe: heme proteins
Mg: ATPases
Se: glutathione peroxidase
Zn: superoxide dismutase

2

Examples of irreversible inhibitors

Pb, organophosphates, CN, sulfide, aspirin

3

Bone disease

Alkaline phosphatase

4

Obstructive liver disease (2)

Sorbitol DH and Lactate DH (LDH-5)

5

Prostate cancer

Acid phosphatase

6

Acute pancreatitis

Amylase

7

Muscular dystrophy (2)

Aldolase and ASH

8

Liver disorder

CK-MM

9

Niemann-Pick Disease

Deficiency in A-SMase --> cannot breakdown sphingomyelin.
Leads to hepatomegaly, slenomegaly and neuro problems.
Hallmark "cherry red spot" in the eye.

10

Erythroblastosis fetalis

Mom is Rh- and fetus is Rh+. Mom produces ABs that attack fetus in pregnancy. Risk is higher in subsequent pregnancies.

11

Spur Cell Anemia

Elevated cholesterol in RBC decreases fluidity/flexibility of membrane causing lysis as they pass through splenic capilaries.

12

Cystic Fibrosis

Mutation in the CFTR gene, causing buildup of Cl- in the airway epithelial cells. This causes increase in intracellular NaCl, causing influx of H2O. Leads to thicker mucous and increase risk of infections.

13

Cystinuria

Defect in transport for Cys, Arg, Lys, Orn. Results in Cystine crystals in kidney. Present w/ renal cholic.

14

Hartnup Disease

Defect in transporter for nonpolar or neutral AAs.
Results in cerebellar ataxia, photodermatitis, and photosensitivity.

15

Cardiotonic drugs

Inhibit Na/K - ATPase pump, leading to an increase in IC Ca2+ resulting in strong heart contraction.

16

Tarui Disease (GSD)

Deficient in PFK-1.
Results in muscle cramps/weakness, hemolytic anemia, jaundice.
Sx usually mild.

17

F 1,6-BP Deficiency

Similar to Tarui's. (d/o of GNG)

18

Von Gierke Disease

Deficiency in G 6-phosphatase. (d/o of GNG)

19

Fanconi-Bickel Syndrome

Caused by mutation in GLUT 2 transporter. Unable to take up Glc, Fru, Gal.
Failure to thrive, hepatomegaly.

20

GALT deficiency

Accumulation of galactitol.
Failure to thrive, liver failure.
Gal met d/o.

21

Galactokinase Deficiency

Accumulation of Gal and galactitol in blood and urine.
Leads to cataracts.
Gal met d/o.

22

D/O associated with enzyme deficiencies in glycogen metablism (5)

GSD 0
GSD II - Pompe Disease
GSD III - Cori Disease
GSD IV - Andersen Disease
GSD V - McArdle Disease
GSD VI - Hers Disease
(PCAMH)

23

GSD 0

Defective enzyme: glycogen synthase
Pathway affected: glycogenesis, chain elongation.
Rely on Glc in diet and must eat frequently.

24

GSD II

Pompe Disease
Defective enzyme: acid maltase.
Pathway affected: lysosomal glycogenolysis; release of Glc.
Disrupts function of muscle (skeletal and cardiac) and liver cells, leading to muscle weakness and myopathies.

25

GSD III

Cori Disease
Defective enzyme: debranching enzyme
Pathway affected: glycogenolysis; Glc release from a branch point.

26

GSD IV

Andersen Disease
Defective enzyme: glucosyl (4:6) trasnferase
Pathway affected: glycogenesis; chain branching
Cirrhosis, fatal by 5 years.

27

GSD V

McArdle Disease
Enzyme affected: muscle glycogen phosphorylase
Pathway affected: glycogenolysis; Glc 1-P release
Cannot supply enough Glc to muscles

28

GSD VI

Hers Disease
Enzyme affected: liver glycolysis phosphorylase
Pathway affected: glycogenolysis; Glc 1-P release
Low blood Glc levels, hepatomegaly

29

Mitochondrial defects of catabolism of FAs (4)

CPT 1 def
CACT def
CPT II def
MCAD def

30

Peroxisomal defects of catabolism of FAs (4)

Zellweger syndrome
Infantile Refsum disease
X-linked adrenoleukodystrophy
Adult Refsum disease
(ZIXA)

31

MCAD Deficiency

Impairs breakdown of MCFAs, leads to secondary carnitine deficiency. Pts must depend on glucose.