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Undeleted > Intro to metabolic disease > Flashcards

Intro to metabolic disease Flashcards

1
Q

def. metabolics

A

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

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2
Q

what are diseases of metabolism

A

inborn errors of metabolism

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3
Q

what is basic chemical rxn

A

substrate>enzyme>product

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4
Q

what happens if no enzyme

A

incr. substrate and dec. product

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5
Q

what is basic PKU (phenyketonuria) rxn

A

phenyalalnine> phen. hydroxylase>tyrosine

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6
Q

what causes PKU

A

auto recessive due to mutation in PAH gene

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7
Q

prob. in PKU

A
  • high phenylalanine
  • low tyrosine leads low serotonin and dopa
  • defective myelnation, cog. probs
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8
Q

what are sig. phenylalanine levels

A

normal - 120

  • in PKU if can maintain 400 - near normal IQ
  • each incr. of 300 leads to loss of 0.5SD of IQ
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9
Q

why are PKU light

A

tyrosine is also converted into melanin

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10
Q

what is PKU treatment

A

substrate reduction therapy - reduce all protein and take protein supplement

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11
Q

how is PKU tested for

A

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

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12
Q

what is antoher PKU treatment

A

product replacement - give large AAs that compete for crossing over into brain of phenyalalnine

  • reduces brain phenyl
  • increased brain tyrosine and tryptophan
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13
Q

what is new PKU treatment

A

enzyme enhancement - BH4 - helps PAH

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14
Q

what is another new treatment

A

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

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15
Q

what are 3 main saccharides and makeup

A

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

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16
Q

what is glycogne

A

highly branched polymer of glucose molecules

17
Q

what causes glycogen storage disease

A

lack of glucose 6 phosphatase

- can’t create glucose from glycogen and gluconeogenisis to put into blood stream

18
Q

phsyio effect of GSD

A
  • low glocuse
  • large liver with glycogen
  • high triglycerides
  • high lactate
19
Q

clinical probs with GSD

A
  • hepatomegaly
  • hypoglycemia
  • high triglycerides
  • high uric acid
20
Q

how to treat GSD

A

dependent on cornstarch feeds

21
Q

what else needs to be managed

A
  • fibrates for hyperlipiemia
  • treat stones - ;ithroscopy
  • monitor liver for adenomas
22
Q

what is gene therapy for GSD

A

improvement of G6Pase activity and reduction of glycogen in liver

23
Q

other therapy

A

hepatocyte transplant - may last up to a year

24
Q

2 main types of metabolism disorders

A
  1. probs with intermediary metabolism

2. problems affectin organelles

25
Q

what are organelle disease

A

conidtions involving macromolecules

26
Q

how do organelle disorders present (3)

A
  1. pregressive
  2. permaent
  3. indep. of food intake
27
Q

2 gen. clinical features of organelle dis.

A
  1. features correlate with organ where accumulation happens

2. features will affect organs where organelles are pref. utilized

28
Q

what is lysozomal storage diseases

A

def. in one or more lysosomal hydrolases

- get substrate buildup

29
Q

3 examples

A
  1. heparine sulfate - in brain
  2. dermatan sulfate - brain
  3. keratan sulfate - bone
30
Q

what is mucopolysaccharidosis (MPS) type 1

A

hurlers syndrome

31
Q

features of hurler

A
  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
Q

what causes hurler

A

defect in iduonidase enzyme

33
Q

what causes effects of hurlers

A

buildup and depends where it accummulates

34
Q

3 treatments of hurler

A
  1. enzyme replacement therapy (ERT)
  2. bone marrow trnasplant (source of enzyme)
  3. treat syndromic complications
35
Q

what is ERT effects for hurler

A
  • improved joint ROM
  • cardiac and pulm. function
  • liver size reduced
36
Q

what are limits of ERT (4)

A
  1. safelty - allergies common
  2. hard to reahc sx - brain
  3. know when to start/stop
  4. cost
37
Q

when to do marrow trans

A

early and before IQ drops

38
Q

3 reasons with think organelle

A
  1. regression
  2. chronic course
  3. dysmorphism

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