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Flashcards in Inherited metabolic disorders Deck (14)
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1
Q

inherited metabolic disorders may mimic what other conditions?

A

sepsis
birth trauma
heart failure

2
Q

when should a metabolic disorder be considered?

A
  • in all neonates with unexplained, overwhelming or progressive disease after a normal pregnancy
  • in all children with acute deterioration of their general condition, especially when preceded by illness
  • in all children with symptoms and signs of acidosis or hypoglycemia
3
Q

what are the clinical features of metabolic errors?

A
  • hypoglycemia
  • metabolic acidosis / lactic acidosis / ketosis
  • hyperammonemia
4
Q

do newborns sweat?

A

no

5
Q

phenylketonuria is a lack of what enzyme?

A

phenylalanine hydroxylase

6
Q

how long must diet be maintained for phenylketonuria?

A

for life

7
Q

in phenylketonuria problems present when maternal phenylalanine exceeds what level?

A

360 uM

8
Q

what are the symptoms of a child born to a mother with PKU?

A
  • microcephaly
  • low birth weight
  • mental retardation
  • malformations in infants of mothers with poorly controlled PKU
9
Q

galactosemia is a disorder of the metabolism of what compound? which enyzme is deficient?

A

galactose-1-phosphate (accumulates)

galactose-1-phosphate uridylyltransferase

10
Q

what are the clinical manifestations of galactosemia?

A
  • physically normal at birth
  • fulminant or delayed presentations
  • vomiting, diarrhea, jaundice, anemia, cataracts
  • susceptible to gram negative sepsis
11
Q

what test is used to diagnose galactosemia?

A

red cell enzyme test

12
Q

what is the treatment for galactosemia?

A

removal of galactose (lactose) from diet

13
Q

what are the pH, pCO2, and HCO3 levels in organic acidemias?

A

pH - low
pCO2 - low
HCO3 - low

14
Q

what are the pH, pCO2, and HCO3 levels in urea cycle disorders?

A

pH - high
pCO2 - low
HCO3 - low