Midterm Clinicals Revised Flashcards Preview

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Flashcards in Midterm Clinicals Revised Deck (30):
1

Gall stones

When composition of bile salts to cholesterol is non ideal, formation of crystalline structures

Can lead to malabsorption and fat soluble via deficiencies

2

Lactose intolerence

Genetic deficiency in lactase
Belly pain

3

Gastric proton pump

Ulcers need to reduce HCL level
Inhibits carbonic anhydrase

4

Pb poisoning

ALA dehyratase deficiency
-Can form heme
-Abdominal pain and headaches
EDTA to remove Pb

5

Scott's syndrome

Defective floppase
PS can't move to surface
Decrease in coagulation and platelet formation

6

Niemann-Pick

Cherry Red Spot
Deficiency in sphingomyelinase
increase in sphingomyelin in liver, spleen, CNS and bone marrow
Neurologic manifestations
Hepatosplenomegaly

7

Spur cell anemia

Thorny projections
Elevated cholesterol
Decrease in fluidity
RBC lyse in spleen
Chronic liver disease
Hemolytic anemia

8

Cystic fibrosis

Defective cl- transport
Thick mucous secretions
All mucous lined membranes
Pnemonia
Decrease in digestive enzymes
Diabetes

9

Fanconi-Bickel syndrome

Problem in Glut 2

10

Homocystinuria

deficiency in cystionine beta syn
or insufficient B6
Need PLP
Problem w/ metabolism in Met

11

Thyroid problems

Hyperthyroidism: too many thyroid hormones. Treatment block iodination of tyrosine

12

Maple syrup urine disease (MSUD)

deficiency in branched chain kinase activity
deficiency in oxidative decarboxylation
BCAA end up in urine (smell)
Amish Jewish

13

PKU

Problem in Phe metabolism
deficiency in phenylalanine hydroxylase
Build up phe and phe derivatives
Dietary limit on phe consumption, tyrosine supplement

14

Primary Carnitine def

deficiency in CPT1

15

MCAD

deficiency in Acetyl coA dehydratse
can't do beta oxidation

16

Hypoglycin

toxin in unripe fruit
conjugates w/ co enzyme a and carnitane
transport LCFA inhibited
glucose up
gluconeogenesis down

17

Adult Refsum disease

deficiency in alpha oxidation of phytonic acid
deficiency in phytanoyl coa hydrolayse causes accumulation of phytonic cid

18

Infantile Refsum disease

deficiency in peroxisome
caused by mutations in genes for peroxin proteins
Loss of hearing and vision

19

Tarui disease

deficiency in PFK-1
Little regulation of glycolysis
Least common GSD
exercise induced muscle cramps and weakness
Hemolytic anemia

20

Deficiency in GALT vs Deficiency in galactokinase

Galt --> build up galactose 1-p
galactokinase --> galactose --> galacitol
(builds up in lens of eye)

21

Methotrexate

Block DHFR
competitive inhibitor
blocks formation of IMP

22

Lesch-Nyhan Syn

HGPRT deficiency
Increase in uric acid
Increase in PRPP
Gout
Self mutilation

23

SCID

ADA deficiency
Increase in Adenosine
decrease in other nucleotides
Decrease in B and T cells
Decrease immune system
Bubble boys

24

Gout

Build up of uric acid
Big Toe

25

Van Gierke disease

deficiency in glucose 6 phosphatase
insufficent release of free glucose

26

GSD IV/ Anderson

deficiency in glycosyl 4:6 transferase
patient with long chain glycogen w/ free branches

27

GSD III/ Cori disease

deficiency in alpha 1,6 glucosidase
deficiency in branching enzyme
long chain w/ little branches

28

Neonatal Lactic acidosis

phosphatase deficiency
constantly phosphorylated PDC
pyruvate dehydrogenase inactive

29

Fumarate deficiency

Fumarate in urine

30

X-linked adrenoleuk

VLCFA transporter
Defects in ALD protein