peds13 Flashcards
(100 cards)
transient hyperammonemia of the newborn
self-limited; may present in premature infants in the first few days of life; aggressive treatment is required to prevent neurologic sequelae
most common urea cycle defect
OTC def
how is OTC def inheritied
x-linked recessive and therefore males more severely affected
clinical features
vomitting and lethargy; begins at onset of protein ingestion
dx of OTC def
elevated urine orotic acid, decr serum citrulline, and increased ornithine; also liver biopsy
management of OTC def
low-protein diet; liver transplant may be necessary
galactosemia
glactose-1-phosphate uridyltransferase def
galactosemia should be suspected when
any newborn with hepatomegaly and hypoglycemia
clinical features of galactosemia
begins after newborn feeds a cow’s milk based formula or breastfeeds for the first time; vomitting, diarrhea, and FTT; hepatic dysfunction and hepatomegaly; cataracts, RTA
dx of galactosemia
non-glucose reducing substance in urine tested by Clinitest; confirmation fo enzyme def in RBCs; prenatal and newborn screenign are available
management of galactosemia
galactose free diet
prognosis of galactosemia
good, with normal intelligence if the disorder is treated earl; mental retard if detected late; ovarian failure in females; E coli sepsis in early infancy
hereditary fructose intolerance
fructose-1-phosphate aldolase B def; begins after intro of fruit
symptoms of hereditary fructose intolerance
severe hypoglycemia, vomitting, diarrhea, FTT, and seizures
management of hereditary fructose intolerance
avoidance of fructose, sucrose, and sorbitol
organomegaly and metabolic acidososi
think glycogen storage diseae
vonGierke’s disease (GSD type 1)
G6Pase def;hypoglycemia, hepatomegaly; metabolic acidosis, hypertriglyceridemia, and enlarged kidneys
management of GSD type 1
frequent feeding with complex carb diet
risk of GSD type 1
patients at incr risk for hepatocellular carcinoma
pompe’s disease (GSD type 2)
alpha glucosidase def; muscular weakness and cardiomegaly, hepatomegaly
when do FAO def present?
during acute illness or fasting, when Fas would be used as energy
clinical features of FAO def
non-ketotic hypoglycemia; hyperamonemia; myopathy and cardiomyopathy
most common FAO defect
medium chain acyl-coA dehydrogenase def
dx of medium chain acyl-coA dehyd def
mass spectrometry to detect elevated amts of medium chain fatty acids