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Pathology > C - Metabolic Disorders & Screening (E) > Flashcards

C - Metabolic Disorders & Screening (E) Flashcards

1
Q

inherited metaboic disorders result in deficient ____ activity, leading to:
lack of ____
build up of ____
abnormal _____

A

enzyme
end product
precursors
metabolites

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2
Q

what is phenylketonuria

A

phenylalanine hydrozylase deficiency

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3
Q

sx of phenylketonuria

A

very reduced IQ

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4
Q

incidence of PKU

A

1/5000 - 15,000

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5
Q

Ix for PKU

A

blood phenylalanine (high)

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6
Q

tx for PKU
- key thing to remember with timeline of PKU

A

low phenylalanine diet
- must be started in first 6 weeks of life

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7
Q

how is PKU screened for

A

guthrie card - heel prick

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8
Q

CF screening test from guthrie card in lab

A

high blood immune reactive trypsin

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9
Q

how is MCAD screened for

A

acycl carnatine panel

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10
Q

24M confused, resp alkalosis, prolonged clotting and deranged LFTs.
+++ ammonia. Dx?

A

urea cycle defect

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11
Q

what is the urea cycle overall

A

ammonia –> urea

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12
Q

what happens if you have very high ammonia

A

seizures
coma
death

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13
Q

is urea cycle defect recessive or dominant

A

recessive - one is X linked

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14
Q

what other marker is high if you have high ammonia ? why?

A

glutamine (adding ammonia to glutamate)

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15
Q

how do you treat high ammonia

A

remove ammonia - sodium benzoate / sodium phenylacetate / dialysis
reduce ammonia production - low protein diet

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16
Q

flags for urea cycle disorders

A

vomitting without diarrhoea
respiratory alkalosis
hyperammonaemia
neuroloigcal encephalopathy
avoidance / change in diet (protein)

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17
Q

hyperammonaemia with metabolic acidosis & high anion gap

A

organic acidurias

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18
Q

what causes organic acidurias

A

poor breakdown of branched chain amino acids

19
Q

clinical sign of organic acidurias

A

cheesy / sweaty smelling urine

20
Q

what compound causes cheesy / sweaty smell of organic acidurias

A

isovaleryl glycine

21
Q

PC of organic acidurias

A

unusual odour of urine
lethargy
feeding problems
truncal hypotonia / limb hypertonia
myoclonic jerks
metabolic acidosis with high ammonia
low Ca
neutropaenia, thrombopaenia

22
Q

PC of chronic intermitten form of organic aciduria

A

recurrent episodes of ketoacidotic coma, cerebral abnormalities

23
Q

name a type of chronic intermitten organic aciduria

A

Reye’s syndrome

24
Q

Sx of reyes syndrome

A

vomitting, lethargy, confusion, seizures, resp arrest

25
Q

what triggers reyes syndrome

A

salicylates, antiemetics, valproate

26
Q

tests for ?reyes

A

ammonia
plasma / urine amino acids
urine organic acids
plasma / blood glucose and lactate
blood spot carnatine profile

27
Q

which test will be abnormal even in remission for reyes

A

blood spot carnatine profile
- all the others need to be done when the Sx are present

28
Q

sugar / ketone level of mitochondrial fatty acid B-oxidation defect (MCAAD)

A

low sugar
low ketones
(ketones should be high if sugar low in normal person)

29
Q

signs of MCAAD

A

hepatomegaly
cardiomyopathy

30
Q

lab tests for MCADD

A

blood ketones
urine organic acids
blood spot acylcarnitine profile

31
Q

what is galactosaemia

A

disorder of galactose metabolism (carb breakdown)

32
Q

which galactoseamia form is most common & most severe

A

gal-1-PUT

33
Q

what effects does galactosaemia have on body

A

liver and kidney disease

34
Q

PC of galactosaemia

A

vomitting
diarrhoea
conjugated hyperbilirubinaemia
hepatomegaly
hypoglycaemia
sepsis - e.coli

35
Q

complication of galactosaemia

A

galactitiol (bilateral cateracts)

36
Q

what is glycogen storage disease type 1

A

can’t break down glycogen so you end up storing too much of it

37
Q

complications of glycogen storage disease type 1

A

hepatomegaly
nephromegaly
hypoglycaemia
lactic acidosis
neutropaenia

38
Q

why do mitochondrial disorders present at varying ages

A

heteroplasmy of mitochondrial DNA means a threshold of mutant DNA needs to be reached before Sx show

39
Q

where in the body do mitochondrial disorders affect most

A

high energy requirement organs - brain, muscle, kidney, retina, endocrine

40
Q

mitochondrial disorders:
Sx of Barth syndrome and when does it present

A

cardiomyopathy, neutropenia, myopathy
birth

41
Q

mitochondrial disorders:
Sx of MELAS and when does it present

A

mitochondrial encephalopathy, lactic acidosis, stroke like episodes
5-15

42
Q

mitochondrial disorders:
Sx of kearns-sayre and when does it present

A

opthalmoplegia, retinopathy, deafness, ataxia
12-30

43
Q

Ix of mitochondrial disorders

A

elevated lactate (esp after periods of fasting)
CSF lactate / pyruvate
CSF protein
CK / muscle biopsy
mitochondrial DNA analysis

Pathology (87 decks)

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