Inherited metabolic disorders Flashcards
inherited metabolic disorders may mimic what other conditions?
sepsis
birth trauma
heart failure
when should a metabolic disorder be considered?
- 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
what are the clinical features of metabolic errors?
- hypoglycemia
- metabolic acidosis / lactic acidosis / ketosis
- hyperammonemia
do newborns sweat?
no
phenylketonuria is a lack of what enzyme?
phenylalanine hydroxylase
how long must diet be maintained for phenylketonuria?
for life
in phenylketonuria problems present when maternal phenylalanine exceeds what level?
360 uM
what are the symptoms of a child born to a mother with PKU?
- microcephaly
- low birth weight
- mental retardation
- malformations in infants of mothers with poorly controlled PKU
galactosemia is a disorder of the metabolism of what compound? which enyzme is deficient?
galactose-1-phosphate (accumulates)
galactose-1-phosphate uridylyltransferase
what are the clinical manifestations of galactosemia?
- physically normal at birth
- fulminant or delayed presentations
- vomiting, diarrhea, jaundice, anemia, cataracts
- susceptible to gram negative sepsis
what test is used to diagnose galactosemia?
red cell enzyme test
what is the treatment for galactosemia?
removal of galactose (lactose) from diet
what are the pH, pCO2, and HCO3 levels in organic acidemias?
pH - low
pCO2 - low
HCO3 - low
what are the pH, pCO2, and HCO3 levels in urea cycle disorders?
pH - high
pCO2 - low
HCO3 - low
