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MCM Exam 1 > Etc. > Flashcards

Etc. Flashcards

1
Q

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

A 
Cu: cytochrome c oxidase
Fe: heme proteins
Mg: ATPases
Se: glutathione peroxidase
Zn: superoxide dismutase
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2
Q

Examples of irreversible inhibitors

A

Pb, organophosphates, CN, sulfide, aspirin

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3
Q

Bone disease

A

Alkaline phosphatase

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4
Q

Obstructive liver disease (2)

A

Sorbitol DH and Lactate DH (LDH-5)

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5
Q

Prostate cancer

A

Acid phosphatase

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6
Q

Acute pancreatitis

A

Amylase

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7
Q

Muscular dystrophy (2)

A

Aldolase and ASH

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8
Q

Liver disorder

A

CK-MM

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9
Q

Niemann-Pick Disease

A

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

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10
Q

Erythroblastosis fetalis

A

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

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11
Q

Spur Cell Anemia

A

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

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12
Q

Cystic Fibrosis

A

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.

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13
Q

Cystinuria

A

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

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14
Q

Hartnup Disease

A

Defect in transporter for nonpolar or neutral AAs.

Results in cerebellar ataxia, photodermatitis, and photosensitivity.

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15
Q

Cardiotonic drugs

A

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

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16
Q

Tarui Disease (GSD)

A

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

17
Q

F 1,6-BP Deficiency

A

Similar to Tarui’s. (d/o of GNG)

18
Q

Von Gierke Disease

A

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

19
Q

Fanconi-Bickel Syndrome

A

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

20
Q

GALT deficiency

A

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

21
Q

Galactokinase Deficiency

A

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

22
Q

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

A 
GSD 0
GSD II - Pompe Disease
GSD III - Cori Disease
GSD IV - Andersen Disease
GSD V - McArdle Disease
GSD VI - Hers Disease
(PCAMH)
23
Q

GSD 0

A

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

24
Q

GSD II

A

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
Q

GSD III

A

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

26
Q

GSD IV

A

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

27
Q

GSD V

A

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

28
Q

GSD VI

A

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

29
Q

Mitochondrial defects of catabolism of FAs (4)

A

CPT 1 def
CACT def
CPT II def
MCAD def

30
Q

Peroxisomal defects of catabolism of FAs (4)

A 
Zellweger syndrome
Infantile Refsum disease
X-linked adrenoleukodystrophy
Adult Refsum disease
(ZIXA)
31
Q

MCAD Deficiency

A

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

MCM Exam 1 (10 decks)

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