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Sydney Child Health Program > 24.3 inborn erors of metabolism > Flashcards

24.3 inborn erors of metabolism Flashcards

1
Q

Maple syrup urine disease caused by?

A

Leucine build up: encephalopathy, coning, death, in 2-3 weeks

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2
Q

acute metabolic disorders what clinical findings?

A

hypoglycaemia
encephalopathy
irritability
tachypnoea without respiratory findings

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3
Q

what investigations in acute metabolic disorders ?

A 
VBG/ABG
ketones
lactate
ammonia
plasma carnitine
urine metabolic screen
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4
Q

what is MPS?

A

mucopolysaccharidosis

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5
Q

mucopolysaccharidosis things to look out for?

A

short stature
umbilical hernia
carpel tunnel
bony issues

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6
Q

PKU untreated affects?

A

IQ
behaviours, hyperactivity
destructiveness

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Sydney Child Health Program (113 decks)

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