Intro to metabolic disease Flashcards Preview

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Flashcards in Intro to metabolic disease Deck (38):
1

def. metabolics

sum total of al chemical rxns in a cell which include ysnthesis and breakdown of organic molecules

2

what are diseases of metabolism

inborn errors of metabolism

3

what is basic chemical rxn

substrate>enzyme>product

4

what happens if no enzyme

incr. substrate and dec. product

5

what is basic PKU (phenyketonuria) rxn

phenyalalnine> phen. hydroxylase>tyrosine

6

what causes PKU

auto recessive due to mutation in PAH gene

7

prob. in PKU

- high phenylalanine
- low tyrosine leads low serotonin and dopa
- defective myelnation, cog. probs

8

what are sig. phenylalanine levels

normal - 120
- in PKU if can maintain 400 - near normal IQ
- each incr. of 300 leads to loss of 0.5SD of IQ

9

why are PKU light

tyrosine is also converted into melanin

10

what is PKU treatment

substrate reduction therapy - reduce all protein and take protein supplement

11

how is PKU tested for

all infants screened by tandem mass spectroscopy - used to be guthrie test

12

what is antoher PKU treatment

product replacement - give large AAs that compete for crossing over into brain of phenyalalnine
- reduces brain phenyl
- increased brain tyrosine and tryptophan

13

what is new PKU treatment

enzyme enhancement - BH4 - helps PAH

14

what is another new treatment

alternative routes of metabolism - PAL phenylalanine lyase turns Phe into cinammic acid

15

what are 3 main saccharides and makeup

maltose - glu +glu
lactose - glu + galactose
sucrose - glu + fructose

16

what is glycogne

highly branched polymer of glucose molecules

17

what causes glycogen storage disease

lack of glucose 6 phosphatase
- can't create glucose from glycogen and gluconeogenisis to put into blood stream

18

phsyio effect of GSD

- low glocuse
- large liver with glycogen
- high triglycerides
- high lactate

19

clinical probs with GSD

- hepatomegaly
- hypoglycemia
- high triglycerides
- high uric acid

20

how to treat GSD

dependent on cornstarch feeds

21

what else needs to be managed

- fibrates for hyperlipiemia
- treat stones - ;ithroscopy
- monitor liver for adenomas

22

what is gene therapy for GSD

improvement of G6Pase activity and reduction of glycogen in liver

23

other therapy

hepatocyte transplant - may last up to a year

24

2 main types of metabolism disorders

1. probs with intermediary metabolism
2. problems affectin organelles

25

what are organelle disease

conidtions involving macromolecules

26

how do organelle disorders present (3)

1. pregressive
2. permaent
3. indep. of food intake

27

2 gen. clinical features of organelle dis.

1. features correlate with organ where accumulation happens
2. features will affect organs where organelles are pref. utilized

28

what is lysozomal storage diseases

def. in one or more lysosomal hydrolases
- get substrate buildup

29

3 examples

1. heparine sulfate - in brain
2. dermatan sulfate - brain
3. keratan sulfate - bone

30

what is mucopolysaccharidosis (MPS) type 1

hurlers syndrome

31

features of hurler

1. runny nose and otitits
2. hernias
3. coarse face and cornela clouding
4. large liver and spleen
5. dev. slowed by year 2

32

what causes hurler

defect in iduonidase enzyme

33

what causes effects of hurlers

buildup and depends where it accummulates

34

3 treatments of hurler

1. enzyme replacement therapy (ERT)
2. bone marrow trnasplant (source of enzyme)
3. treat syndromic complications

35

what is ERT effects for hurler

- improved joint ROM
- cardiac and pulm. function
- liver size reduced

36

what are limits of ERT (4)

1. safelty - allergies common
2. hard to reahc sx - brain
3. know when to start/stop
4. cost

37

when to do marrow trans

early and before IQ drops

38

3 reasons with think organelle

1. regression
2. chronic course
3. dysmorphism

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